Literature DB >> 9863606

Autosomal recessive anhidrotic ectodermal dysplasia in a large Moroccan family.

K Kabbaj1, L Baala, H Chhoul, A Sefiani.   

Abstract

We studied a large Moroccan family in which anhidrotic ectodermal dysplasia is transmitted as an autosomal recessive trait. Fourteen family members, both males and females, were affected and they all had a common ancestor. Linkage analysis by homozygosity mapping in this family will permit the gene localisation of this rare form of anhidrotic ectodermal dysplasia.

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Year:  1998        PMID： 9863606      PMCID： PMC1051521          DOI： 10.1136/jmg.35.12.1043

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  6 in total

1.  X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein.

Authors:  J Kere; A K Srivastava; O Montonen; J Zonana; N Thomas; B Ferguson; F Munoz; D Morgan; A Clarke; P Baybayan; E Y Chen; S Ezer; U Saarialho-Kere; A de la Chapelle; D Schlessinger
Journal:  Nat Genet       Date:  1996-08       Impact factor: 38.330

2.  X-linked anhidrotic ectodermal dysplasia and de novo t(X;1) in a female.

Authors:  J Limon; J Filipiuk; B Nedoszytko; K Mrózek; M Castrén; M Larramendy; J Roszkiewicz
Journal:  Hum Genet       Date:  1991-07       Impact factor: 4.132

3.  Clinical aspects of X-linked hypohidrotic ectodermal dysplasia.

Authors:  A Clarke; D I Phillips; R Brown; P S Harper
Journal:  Arch Dis Child       Date:  1987-10       Impact factor: 3.791

4.  X-linked hypohidrotic ectodermal dysplasia and t(X;12) in a female.

Authors:  C Turleau; P Niaudet; M O Cabanis; G Plessis; D Cau; J de Grouchy
Journal:  Clin Genet       Date:  1989-06       Impact factor: 4.438

5.  Proceedings: Report of the Committee on the Genetic Constitution of the X Chromosome.

Authors:  P S Gerald; J A Brown
Journal:  Cytogenet Cell Genet       Date:  1974

6.  Anhidrotic ectodermal dysplasia as autosomal recessive trait in an inbred kindred.

Authors:  E Passarge; C T Nuzum; W K Schubert
Journal:  Humangenetik       Date:  1966
  6 in total
  1 in total

1.  Autosomal recessive anhidrotic ectodermal dysplasia: a rare entity.

Authors:  Sangita Ghosh; Epsita Ghosh; Surabhi Dayal
Journal:  Indian J Dermatol       Date:  2014-07       Impact factor: 1.494
  1 in total

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