A novel splice-site mutation in theAAGABgene segregates with hereditary punctate palmoplantar keratoderma and congenital dysplasia of the hip in a large family-Reference-Cited by-同舟云学术

A novel splice-site mutation in theAAGABgene segregates with hereditary punctate palmoplantar keratoderma and congenital dysplasia of the hip in a large family

Published:2013-12-02 Issue:2 Volume:39 Page:182-186
ISSN:0307-6938
Container-title:Clinical and Experimental Dermatology
language:en
Short-container-title:Clin Exp Dermatol

Author:

Eytan O.¹²,Sarig O.¹,Israeli S.¹,Mevorah B.¹,Basel-Vanagaite L.²³⁴,Sprecher E.¹²

Affiliation:

1. Department of Dermatology; Tel Aviv Sourasky Medical Center; Tel Aviv Israel

2. Department of Human Molecular Genetics and Biochemistry; Sackler Faculty of Medicine; Tel Aviv University; Ramat Aviv Israel

3. Schneider Children's Medical Center of Israel and Raphael Recanati Genetics Institute; Petah Tikva Israel

4. Felsenstein Medical Research Center; Rabin Medical Center; Petah Tikva Israel

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ced.12213/fullpdf

Reference22 articles.

1. The molecular basis of hereditary palmoplantar keratodermas;Kimyai-Asadi;J Am Acad Dermatol,2002

2. The hereditary palmoplantar keratoses: an updated review and classification;Lucker;Br J Dermatol,1994

3. Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer;Giehl;Am J Hum Genet,2012

4. Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma;Pohler;Nat Genet,2012

5. Loss-of-function mutation in AAGAB gene in Chinese families with punctuate palmoplantar keratoderma;Li;Br J Dermatol,2013

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3. Punctate palmoplantar keratoderma, porokeratotic type;Klinicheskaya dermatologiya i venerologiya;2023

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