Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome-Reference-Cited by-同舟云学术

Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

Published:2018-01-18 Issue:2 Volume:26 Page:210-219
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Kievit Anneke,Tessadori Federico,Douben Hannie,Jordens Ingrid,Maurice Madelon,Hoogeboom Jeannette,Hennekam Raoul,Nampoothiri Sheela,Kayserili Hülya,Castori Marco,Whiteford Margo,Motter Connie,Melver Catherine,Cunningham Michael,Hing Anne,Kokitsu-Nakata Nancy M.,Vendramini-Pittoli Siulan,Richieri-Costa Antonio,Baas Annette F.,Breugem Corstiaan C.,Duran Karen,Massink Maarten,Derksen Patrick W. B.,van IJcken Wilfred F. J.,van Unen Leontine,Santos-Simarro Fernando,Lapunzina Pablo,Gil-da Silva Lopes Vera L.,Lustosa-Mendes Elaine,Krall Max,Slavotinek Anne,Martinez-Glez Victor,Bakkers Jeroen,van Gassen Koen L. I.,de Klein Annelies,van den Boogaard Marie-José H.,van Haaften Gijs^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s41431-017-0010-5.pdf

Reference29 articles.

1. Ghoumid J, Stichelbout M, Jourdain AS, et al. Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1. Genet Med. 2017;19:1013–21.

2. Allanson JE, McGillivray BC. Familial clefting syndrome with ectropion and dental anomaly--without limb anomalies. Clin Genet. 1985;27:426–9.

3. Korula S, Wilson L, Salomonson J. Distinct craniofacial syndrome of lagophthalmia and bilateral cleft lip and palate. Am J Med Genet. 1995;59:229–33.

4. Gorlin RJ, Zellweger H, Curtis MW, et al. Blepharo-cheilo-dontic (BCD) syndrome. Am J Med Genet. 1996;65:109–12.

5. Gil da Silva Lopes VL, Guion-Almeida ML, de Oliveira Rodini ES. Blepharocheilodontic (BCD) syndrome: expanding the phenotype? Am J Med Genet A. 2003;121A:266–70.

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