Genome-wide linkage analysis and whole-genome sequencing identify a recurrent SMARCAD1 variant in a unique Chinese family with Basan syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/ejhg201615.pdf
Reference15 articles.
1. Basan M : Ectodermal dysplasia. Missing papillary pattern, nail disorders and furrows on 4 fingers. Arch Klin Exp Dermatol 1965; 222: 546–557.
2. Gagey-Caron V, Stalder JF, Barbarot S : Basan's syndrome: Congenital absence of dermatoglyphs and milia. Ann Dermatol Venereol 2009; 136: 419–421.
3. Burger B, Fuchs D, Sprecher E, Itin P : The immigration delay disease: adermatoglyphia-inherited absence of epidermal ridges. J Am Acad Dermatol 2011; 64: 974–980.
4. Baird HW 3rd : Kindred showing congenital absence of the dermal ridges (fingerprints) and associated anomalies. J Pediatr 1964; 64: 621–631.
5. Límová M, Blacker KL, LeBoit PE : Congenital absence of dermatoglyphs. J Am Acad Dermatol 1993; 29: 355–358.
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