Online Mendelian Inheritance in Man, OMIM®. 2016. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD), January 2016. World Wide Web URL: http://omim.org/
Google Scholar
Van Maldergem L, Wetzburger C, Verloes A, Fourneau C, Gillerot Y. Mental retardation with blepharo-naso-facial abnormalities and hand malformations: a new syndrome? Clin Genet. 1992;41(1):22–4.
Article
CAS
PubMed
Google Scholar
Zampino G, Colosimo C, Balducci F, Mariotti P, Serra F, Scarano G, Mastroiacovo P. Cerebro-facio-articular syndrome of van Maldergem: confirmation of a new MR/MCA syndrome. Clin Genet. 1994;45(3):140–4.
Article
CAS
PubMed
Google Scholar
Mansour S, Swinkels M, Terhal PA, Wilson LC, Rich P, Van Maldergem L, Zwijnenburg PJ, Hall CM, Robertson SP, Newbury-Ecob R. Van Maldergem syndrome: further characterization and evidence for neuronal migration abnormalities and autosomal recessive inheritance. Eur J Hum Genet. 2012;20(10):1024–31.
Article
PubMed
PubMed Central
Google Scholar
Neuhann TM, Müller D, Hackmann K, Holzinger S, Schrock E, Di Donato N. A further patient with van Maldergem syndrome. Eur J Med Genet. 2012;55(6–7):423–8.
Article
CAS
PubMed
Google Scholar
Cappello S, Gray MJ, Badouel C, Lange S, Einsiedler M, Srour M, Chitayat D, Hamdan FF, Jenkins ZA, Morgan T, Preitner N, Uster T, Thomas J, Shannon P, Morrison V, Di Donato N, Van Maldergem L, Neuhann T, Newbury-Ecob R, Swinkells M, Terhal P, Wilson LC, Zwijnenburg PJ, Sutherland-Smith AJ, Black MA, Markie D, Michaud JL, Simpson MA, Mansour S, McNeill H, Götz M, Robertson SP. Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development. Nat Genet. 2013;45:1300–8.
Article
CAS
PubMed
Google Scholar
Mao Y, Mulvaney J, Zakaria S, Yu T, Morgan KM, Allen S, Basson MA, Francis-West P, Irvine KD. Characterization of a Dchs1 mutant mouse reveals requirements for Dchs1-Fat4 signaling during mammalian development. Development. 2011;138(5):947–57.
Article
CAS
PubMed
PubMed Central
Google Scholar
Zakaria S, Mao Y, Kuta A, de Sousa CF, Gaufo GO, McNeill H, Hindges R, Guthrie S, Irvine KD, Francis-West PH. Regulation of neuronal migration by Dchs1-Fat4 planar cell polarity. Curr Biol. 2014;24(14):1620–7.
Article
CAS
PubMed
PubMed Central
Google Scholar
Beste C, Ocklenburg S, von der Hagen M, Di Donato N. Mammalian cadherins DCHS1-FAT4 affect functional cerebral architecture. Brain Struct Funct. 2016;221(5):2487–91.
Article
CAS
PubMed
Google Scholar
Bianchin G, Tribi L, Reverzani A, Formigoni P, Polizzi V. Original solution for middle ear implant and anesthetic/surgical Management in a Child with severe craniofacial Dysmorphism. Case Rep Otolaryngol. 2015;2015:205972.
PubMed
PubMed Central
Google Scholar
Verheij E, Thomeer HG, Pameijer FA, Topsakal V. Middle ear abnormalities in Van Maldergem syndrome. Am J Med Genet A. 2017 Jan;173(1):239–44.
Article
PubMed
Google Scholar
Kelly BJ, Fitch JR, Hu Y, Corsmeier DJ, Zhong H, Wetzel AN, Nordquist RD, Newsom DL, White P. Churchill: an ultra-fast, deterministic, highly scalable and balanced parallelization strategy for the discovery of human genetic variation in clinical and population-scale genomics. Genome Biol. 2015;16:6.
Article
PubMed
PubMed Central
Google Scholar
Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010;38(16):e164.
Article
PubMed
PubMed Central
Google Scholar
Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, González JR, Gratacòs M, Huang J, Kalaitzopoulos D, Komura D, MacDonald JR, Marshall CR, Mei R, Montgomery L, Nishimura K, Okamura K, Shen F, Somerville MJ, Tchinda J, Valsesia A, Woodwark C, Yang F, Zhang J, Zerjal T, Zhang J, Armengol L, Conrad DF, Estivill X, Tyler-Smith C, Carter NP, Aburatani H, Lee C, Jones KW, Scherer SW, Hurles ME. Global variation in copy number in the human genome. Nature. 2006 Nov 23;444(7118):444–54.
Article
CAS
PubMed
PubMed Central
Google Scholar
Itsara A, Cooper GM, Baker C, Girirajan S, Li J, Absher D, Krauss RM, Myers RM, Ridker PM, Chasman DI, Mefford H, Ying P, Nickerson DA, Eichler EE. Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet. 2009;84(2):148–61.
Article
CAS
PubMed
PubMed Central
Google Scholar
Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, Depristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, DG MA. Exome aggregation consortium. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016;536(7616):285–91.
Article
CAS
PubMed
PubMed Central
Google Scholar
Quaynor SD, Bosley ME, Duckworth CG, Porter KR, Kim SH, Kim HG, Chorich LP, Sullivan ME, Choi JH, Cameron RS, Layman LC. Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome. Mol Cell Endocrinol. 2016;437:86–96.
Article
CAS
PubMed
Google Scholar
Molitch ME, Clemmons DR, Malozowski S, Merriam GR, Shalet SM, Vance ML. Endocrine Society's clinical guidelines subcommittee, Stephens PA. Evaluation and treatment of adult growth hormone deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2006 May;91(5):1621–34.
Article
CAS
PubMed
Google Scholar
Biller BM, Samuels MH, Zagar A, Cook DM, Arafah BM, Bonert V, Stavrou S, Kleinberg DL, Chipman JJ, Hartman ML. Sensitivity and specificity of six tests for the diagnosis of adult GH deficiency. J Clin Endocrinol Metab. 2002;87(5):2067–79.
Article
CAS
PubMed
Google Scholar
Grimberg A, DiVall SA, Polychronakos C, Allen DB, Cohen LE, Quintos JB, Rossi WC, Feudtner C, Murad MH. Drug and therapeutics committee and ethics Committee of the Pediatric Endocrine Society. Guidelines for growth hormone and insulin-like growth factor-I treatment in children and adolescents: growth hormone deficiency, idiopathic short stature, and primary insulin-like growth factor-I deficiency. Horm Res Paediatr. 2016;86(6):361–97.
Article
CAS
PubMed
Google Scholar
Crowley WF, Pitteloud N. Diagnosis and treatment of delayed puberty. In: Snyder PJ, Middleman AB, editors. UpToDate. Waltham: UpTo Date. Accessed on January 14, 2016.
Pitteloud N, Crowley WF. Congrenital gonadotropin-releasing hormone deficiency (idiopathic hypogonadotropic hypogonadism). In: Snyder PJ, Matsumoto AM, editors. UpToDate. Waltham: UpTo Date. Accessed on January 9, 2016.
Russo J. Breast development and morphology. In: Chagpar AB, editor. UpToDate. Waltham: UpTo Date. Accessed on January 6, 2016.
Safe S, Kim K. Non-classical genomic estrogen receptor (ER)/specificity protein and ER/activating protein-1 signaling pathways. J Mol Endocrinol. 2008;41(5):263–75.
Article
CAS
PubMed
PubMed Central
Google Scholar
de Munnik SA, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Clayton-Smith J, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MC, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, Ross A, Sarda P, Schrander-Stumpel CT, Schoots J, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH,Knoers NV, Brunner HG, Jackson AP, Bongers EM. Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis. Eur J Hum Genet. 2012;20(6):598–606.
Article
CAS
PubMed
PubMed Central
Google Scholar
Dreifuss SE, Macisaac ZM, Grunwaldt LJ. Bilateral congenital amazia: a case report and systematic review of the literature. J Plast Reconstr Aesthet Surg. 2014 Jan;67(1):27–33.
Article
PubMed
Google Scholar
Sadove AM, van Aalst JA. Congenital and acquired pediatric breast anomalies: a review of 20 years' experience. Plast Reconstr Surg 2005 Apr;115(4):1039-1050. PubMed PMID: 15793443.
Quaynor SD, Stradtman EW Jr, Kim HG, Shen Y, Chorich LP, Schreihofer DA, Layman LC. Delayed puberty and estrogen resistance in a woman with estrogen receptor α variant. N Engl J Med. 2013;369(2):164–71.
Article
CAS
PubMed
Google Scholar
Borck G, de Vries L, Wu HJ, Smirin-Yosef P, Nürnberg G, Lagovsky I, Ishida LH, Thierry P, Wieczorek D, Nürnberg P, Foley J, Kubisch C, Basel-Vanagaite L. Homozygous truncating PTPRF mutation causes athelia. Hum Genet. 2014;133(8):1041–7.
Article
PubMed
Google Scholar
Schaapveld RQ, Schepens JT, Robinson GW, Attema J, Oerlemans FT, Fransen JA, Streuli M, Wieringa B, Hennighausen L, Hendriks WJ. Impaired mammary gland development And function in mice lacking LAR receptor-like tyrosine phosphatase activity. Dev Biol. 1997;188(1):134–46.
Article
CAS
PubMed
Google Scholar
Savouret JF, Rauch M, Redeuilh G, Sar S, Chauchereau A, Woodruff K, Parker MG, Milgrom E. Interplay between estrogens, progestins, retinoic acid and AP-1 on a single regulatory site in the progesterone receptor gene. J Biol Chem. 1994;269(46):28955–62.
CAS
PubMed
Google Scholar
Heldring N, Pike A, Andersson S, Matthews J, Cheng G, Hartman J, Tujague M, Ström A, Treuter E, Warner M, Gustafsson JA. Estrogen receptors: how do they signal and what are their targets. Physiol Rev. 2007;Jul;87(3):905–31.
Article
CAS
PubMed
Google Scholar
Kircher M, Witten DM, Jain P, O'Roak BJ, Cooper GM, Shendure J. A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet. 2014;46(3):310–5.
Article
CAS
PubMed
PubMed Central
Google Scholar
Dgany O, Avidan N, Delaunay J, Krasnov T, Shalmon L, Shalev H, Eidelitz-Markus T, Kapelushnik J, Cattan D, Pariente A, Tulliez M, Crétien A, Schischmanoff PO, Iolascon A, Fibach E, Koren A, Rössler J, Le Merrer M, Yaniv I, Zaizov R, Ben-Asher E, Olender T, Lancet D, Beckmann JS, Tamary H. Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. Am J Hum Genet. 2002;71(6):1467–74.
Article
CAS
PubMed
PubMed Central
Google Scholar