Literature DB >> 9621144

Hereditary hypotrichosis simplex.

M Just1, M Ribera, M J Fuente, I Bielsa, C Ferrándiz.   

Abstract

Hypotrichosis is a relatively common feature of a number of complex hereditary syndromes. However, the isolated variant, called hereditary hypotrichosis simplex (HHS), is especially uncommon. We present a Spanish family with 8 of 19 persons covering 4 generations affected by HHS. No associated ectodermal or other defects were noted. The pedigree was compatible with an autosomal dominant inheritance with variable penetrance.

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Year:  1998        PMID: 9621144     DOI: 10.1159/000017909

Source DB:  PubMed          Journal:  Dermatology        ISSN: 1018-8665            Impact factor:   5.366


  2 in total

1.  Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex.

Authors:  Sandra M Pasternack; Melanie Refke; Elham Paknia; Hans Christian Hennies; Thomas Franz; Niklas Schäfer; Alan Fryer; Maurice van Steensel; Elizabeth Sweeney; Miquel Just; Clemens Grimm; Roland Kruse; Carlos Ferrándiz; Markus M Nöthen; Utz Fischer; Regina C Betz
Journal:  Am J Hum Genet       Date:  2012-12-13       Impact factor: 11.025

2.  Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family.

Authors:  Khalid Al Aboud; Daifullah Al Aboud
Journal:  Dermatol Reports       Date:  2011-08-03
  2 in total

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