Literature DB >> 6638074

Absence of dermal ridge patterns: genetic heterogeneity.

T Reed, R L Schreiner.   

Abstract

An apparently new form of complete absence of dermal ridge patterns was transmitted as an autosomal dominant trait through five generations in an Irish-American family. Affected individuals lacked dermatoglyphic patterns, sweat pores, and ability to sweat in the volar areas of the fingertips, palms, and soles. They also had congenital milia and blisters on the fingertips and soles at birth, abnormal nails, single transverse palmar creases, increased heat tolerance, and painful fissures in adult life around the fingernails in cold weather.

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Year:  1983        PMID: 6638074     DOI: 10.1002/ajmg.1320160113

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  4 in total

1.  A mutation in a skin-specific isoform of SMARCAD1 causes autosomal-dominant adermatoglyphia.

Authors:  Janna Nousbeck; Bettina Burger; Dana Fuchs-Telem; Mor Pavlovsky; Shlomit Fenig; Ofer Sarig; Peter Itin; Eli Sprecher
Journal:  Am J Hum Genet       Date:  2011-08-04       Impact factor: 11.025

2.  Association between Mutation in SMARCAD1 and Basan Syndrome with Cutaneous Squamous Cell Carcinoma.

Authors:  Ying Xiong; Ting Chen; Jia Yu; He Zhou; Baozhen Lu; Lijie Chen; Liwei Sun; Can Wang; Sujun Li; Bo Wu
Journal:  Dis Markers       Date:  2022-05-10       Impact factor: 3.464

3.  Genome-wide linkage analysis and whole-genome sequencing identify a recurrent SMARCAD1 variant in a unique Chinese family with Basan syndrome.

Authors:  Ming Li; Jianbo Wang; Zhenlu Li; Jia Zhang; Cheng Ni; Ruhong Cheng; Zhirong Yao
Journal:  Eur J Hum Genet       Date:  2016-03-02       Impact factor: 4.246

4.  Two SMARCAD1 Variants Causing Basan Syndrome in a Canadian and a Dutch Family.

Authors:  Youssef Elhaji; Tessa M A van Henten; Claudia A L Ruivenkamp; Mathew Nightingale; Gijs We Santen; Lydia E Vos; Peter R Hull
Journal:  JID Innov       Date:  2021-05-06
  4 in total

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