Menkes disease with discordant phenotype in female monozygotic twins-Reference-Cited by-同舟云学术

Menkes disease with discordant phenotype in female monozygotic twins

Published:2015-08-04 Issue:11 Volume:167 Page:2826-2829
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Burgemeister Anna Lena¹,Zirn Birgit¹²,Oeffner Frank¹,Kaler Stephen G.³,Lemm Gunther⁴,Rossier Eva¹,Büttel Hans-Martin⁵

Affiliation:

1. Genetikum; Genetic Counseling and Diagnostic; Stuttgart and Neu-Ulm Germany

2. Department of Pediatrics and Neuropediatrics; University Medicine; Göttingen Germany

3. Section on Translational Neuroscience, Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institutes of Health; Bethesda Maryland

4. Department of Radiology; SLK-Klinikum; Heilbronn Germany

5. Department of Pediatrics and Neuropediatrics; SLK-Klinikum; Heilbronn Germany

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference20 articles.

1. Duchenne muscular dystrophy in one of monozygotic twin girls;Burn;J Med Genet,1986

2. Lesch-Nyhan disease in a female with a clinically normal monozygotic twin;De Gregorio;Mol Genet Metab,2005

3. Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease;Desai;Clin Genet,2011

4. ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model;Donsante;Mol Ther,2011

5. Neonatal diagnosis and treatment of Menkes disease;Kaler;N Engl J Med,2008

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1. Phenotypic and mutational spectrum of 17 Chinese patients with Menkes Disease;Neurological Sciences;2024-07-06

2. Unfavorable switching of skewed X chromosome inactivation leads to Menkes disease in a female infant;Scientific Reports;2024-01-03

3. First report on female monozygotic twins discordant for congenital nephrogenic diabetes insipidus;American Journal of Medical Genetics Part A;2023-11

4. The pattern of X-inactivation in Human X-linked Disorders and their Model Organisms: A literature review;E3S Web of Conferences;2020

5. Genetics and epigenetics differences in monozygotic twins: the vision of the geneticist;Developmental and Fetal Origins of Differences in Monozygotic Twins;2020