Literature DB >> 26149975

Genetics of human isolated hereditary nail disorders.

S Khan1,2, S Basit3, R Habib4, A Kamal1, N Muhammad1, W Ahmad5.   

Abstract

Human hereditary nail disorders constitute a rare and heterogeneous group of ectodermal dysplasias. They occur as isolated and/or syndromic ectodermal conditions where other ectodermal appendages are also involved, and can occur associated with skeletal dysplasia. 'Nail disorder, nonsyndromic congenital' (OMIM; Online Mendelian Inheritance in Man) is subclassified into 10 different types. The underlying genes identified thus far are expressed in the nail bed and play important roles in nail development and morphogenesis. Here, we review the current literature on nail disorders and present a coherent review on the genetics of nail disorders. This review will pave the way to identifying putative genes and pathways involved in nail development and morphogenesis.
© 2015 British Association of Dermatologists.

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Year:  2015        PMID: 26149975     DOI: 10.1111/bjd.14023

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN: 0007-0963            Impact factor:   9.302


  4 in total

1.  A homozygous missense mutation in SLC25A16 associated with autosomal recessive isolated fingernail dysplasia in a Pakistani family.

Authors:  S Khan; M Ansar; A K Khan; K Shah; N Muhammad; S Shahzad; D A Nickerson; M J Bamshad; R L P Santos-Cortez; S M Leal; W Ahmad
Journal:  Br J Dermatol       Date:  2017-12-01       Impact factor: 9.302

Review 2.  Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature.

Authors:  C Kasparis; D Reid; N J Wilson; V Okur; C Cole; C D Hansen; K Bosse; R C Betz; M Khan; F J D Smith
Journal:  Clin Exp Dermatol       Date:  2016-10-27       Impact factor: 3.470

3.  A possible founder mutation in FZD6 gene in a Turkish family with autosomal recessive nail dysplasia.

Authors:  Ceren Saygı; Yasemin Alanay; Uğur Sezerman; Aslı Yenenler; Nesrin Özören
Journal:  BMC Med Genet       Date:  2019-01-14       Impact factor: 2.103

4.  First Report of a Known Pathogenic Variant in the FZD6 Gene, in an Iranian Family with Recessive Nail Dysplasia: A Case Report.

Authors:  Mirsajjad Mousavi-Asl Germeh Cheshmeh; Ali Najizadeh; Saied Hosseini-Asl; Hooshang Zaimkohan; Roshanak Jazayeri
Journal:  Iran J Public Health       Date:  2019-07       Impact factor: 1.429

  4 in total

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