Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/Occipital horn syndrome in three affected males in a single family-Reference-Cited by-同舟云学术

Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/Occipital horn syndrome in three affected males in a single family

Published:2004-07 Issue:1 Volume:145 Page:119-121
ISSN:0022-3476
Container-title:The Journal of Pediatrics
language:en
Short-container-title:The Journal of Pediatrics

Author:

Borm Bettina,Møller Lisbeth Birk,Hausser Ingrid,Emeis Michael,Baerlocher Kurt,Horn Nina,Rossi Rainer

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology and Child Health

Reference12 articles.

1. Localization of the translocation breakpoint in a female with menkes syndrome to xq13.2-q13.3 proximal to pgk-1;Verga;Am J Hum Genet,1991

2. Mapping of the menkes locus to xq13.3 distal to the x-inactivation center by an intrachromosomal insertion of the segment xq13.3-q21.2;Tümer;Hum Genet,1992

3. Menkes disease and the occipital horn syndrome;Horn,2002

4. Mutation spectrum of atp7a, the gene defective in menkes disease;Tümer;Adv Exp Med Biol,1999

5. ATP7a gene mutations in 16 patients with menkes disease and a patient with occipital horn syndrome;Gu;Am J Med Genet,2001

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4. Defining the Clinical, Molecular and Ultrastructural Characteristics in Occipital Horn Syndrome: Two New Cases and Review of the Literature;Genes;2019-07-12

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