Literature DB >> 2736795

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

C Turleau1, P Niaudet, M O Cabanis, G Plessis, D Cau, J de Grouchy.   

Abstract

A female patient with features of hypohidrotic ectodermal dysplasia (HED) was found to be a carrier of a de novo t(X;12) with a breakpoint in Xq13.1. This is the second instance of an X/autosome translocation, with apparently the same X breakpoint, reported in HED.

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Year:  1989        PMID： 2736795     DOI： 10.1111/j.1399-0004.1989.tb02973.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  8 in total

1.  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

2.  Autosomal recessive anhidrotic ectodermal dysplasia in a large Moroccan family.

Authors:  K Kabbaj; L Baala; H Chhoul; A Sefiani
Journal:  J Med Genet       Date:  1998-12       Impact factor: 6.318

Review 3.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Authors:  N Tommerup
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

4.  High-resolution mapping of the X-linked hypohidrotic ectodermal dysplasia (EDA) locus.

Authors:  J Zonana; M Jones; D Browne; M Litt; P Kramer; H W Becker; N Brockdorff; S Rastan; K P Davies; A Clarke
Journal:  Am J Hum Genet       Date:  1992-11       Impact factor: 11.025

5.  Female with hypohidrotic ectodermal dysplasia and de novo (X;9) translocation. Clinical documentation of the AnLy cell line case.

Authors:  K D MacDermot; M Hultén
Journal:  Hum Genet       Date:  1990-05       Impact factor: 4.132

6.  Detection of a molecular deletion at the DXS732 locus in a patient with X-linked hypohidrotic ectodermal dysplasia (EDA), with the identification of a unique junctional fragment.

Authors:  J Zonana; J Gault; K J Davies; M Jones; D Browne; M Litt; N Brockdorff; S Rastan; A Clarke; N S Thomas
Journal:  Am J Hum Genet       Date:  1993-01       Impact factor: 11.025

7.  Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder.

Authors:  F Munoz; G Lestringant; V Sybert; M Frydman; A Alswaini; P M Frossard; R Jorgenson; J Zonana
Journal:  Am J Hum Genet       Date:  1997-07       Impact factor: 11.025

8.  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
  8 in total

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