Literature DB >> 8357006

Alopecia universalis as a single abnormality in an inbred Pakistani kindred.

M Ahmad1, H Abbas, S Haque.   

Abstract

A Pakistani kindred comprising 5 generations contained 9 males and 4 females with alopecia universalis as a single abnormality without any associated defects. The skin biopsy from the scalp showed hair follicles without hair. Analysis of the pedigree is strongly suggestive of autosomal recessive inheritance, and consanguineous loops could account for all affected persons being homozygous for the abnormal allele.

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Mesh：

Year:  1993        PMID： 8357006     DOI： 10.1002/ajmg.1320460405

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


  7 in total

1.  The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr gene by cDNA and genomic sequencing.

Authors:  M van Steensel; F J Smith; P M Steijlen; I Kluijt; H P Stevens; A Messenger; H Kremer; M G Dunnill; C Kennedy; C S Munro; V R Doherty; J A McGrath; S P Covello; C M Coleman; J Uitto; W H McLean
Journal:  Am J Hum Genet       Date:  1999-08       Impact factor: 11.025

Review 2.  [Genetically induced hair diseases].

Authors:  T Wiederholt; P Poblete-Gutiérrez; J Frank
Journal:  Hautarzt       Date:  2003-07-04       Impact factor: 0.751

3.  A gene for universal congenital alopecia maps to chromosome 8p21-22.

Authors:  M M Nöthen; S Cichon; I R Vogt; S Hemmer; R Kruse; M Knapp; T Höller; M Faiyaz ul Haque; S Haque; P Propping; M Ahmad; M Rietschel
Journal:  Am J Hum Genet       Date:  1998-02       Impact factor: 11.025

4.  Identification of a genetic defect in the hairless gene in atrichia with papular lesions: evidence for phenotypic heterogeneity among inherited atrichias.

Authors:  E Sprecher; R Bergman; R Szargel; R Friedman-Birnbaum; N Cohen
Journal:  Am J Hum Genet       Date:  1999-05       Impact factor: 11.025

5.  Consanguinity and recurrence risk of stillbirth and infant death.

Authors:  C Stoltenberg; P Magnus; A Skrondal; R T Lie
Journal:  Am J Public Health       Date:  1999-04       Impact factor: 9.308

6.  A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers.

Authors:  W Ahmad; A D Irvine; H Lam; C Buckley; E A Bingham; A A Panteleyev; M Ahmad; J A McGrath; A M Christiano
Journal:  Am J Hum Genet       Date:  1998-10       Impact factor: 11.025

7.  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
  7 in total

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