Literature DB >> 1894779

Focal facial dermal dysplasia: two familial cases.

V Di Lernia1, I Neri, A Patrizi.   

Abstract

Focal facial dermal dysplasia (or congenital ectodermal dysplasia of the face) is an inherited condition characterized by congenital scarlike lesions on the temples and a wide spectrum of associated facial abnormalities. We report the case of a woman and her son with this disorder. An autosomal dominant inheritance with variable penetrance and expressivity may explain the different clinical expressions of focal facial dermal dysplasia.

Entities:  

Mesh:

Year:  1991        PMID: 1894779     DOI: 10.1016/0190-9622(91)70211-j

Source DB:  PubMed          Journal:  J Am Acad Dermatol        ISSN: 0190-9622            Impact factor:   11.527


  2 in total

1.  Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1.

Authors:  Anne M Slavotinek; Pavni Mehrotra; Irina Nazarenko; Paul Ling-Fung Tang; Richard Lao; Don Cameron; Ben Li; Catherine Chu; Chris Chou; Ann L Marqueling; Mani Yahyavi; Kelly Cordoro; Ilona Frieden; Tom Glaser; Trine Prescott; Marie-Anne Morren; Koen Devriendt; Pui-yan Kwok; Martin Petkovich; Robert J Desnick
Journal:  Hum Mol Genet       Date:  2012-11-16       Impact factor: 6.150

2.  Homozygous nonsense mutations in TWIST2 cause Setleis syndrome.

Authors:  Turgut Tukel; Drazen Šošić; Lihadh I Al-Gazali; Mónica Erazo; Jose Casasnovas; Hector L Franco; James A Richardson; Eric N Olson; Carmen L Cadilla; Robert J Desnick
Journal:  Am J Hum Genet       Date:  2010-08-13       Impact factor: 11.025

  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.