ZC4H2 deletions can cause severe phenotype in female carriers-Reference-Cited by-同舟云学术

ZC4H2 deletions can cause severe phenotype in female carriers

Published:2017-03-27 Issue:5 Volume:173 Page:1358-1363
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Zanzottera Cristina¹^ORCID,Milani Donatella²,Alfei Enrico³,Rizzo Ambra⁴,D'Arrigo Stefano³,Esposito Susanna²,Pantaleoni Chiara³

Affiliation:

1. Clinical Genetics UnitFondazione IRCCS Ca’ Granda Ospedale Maggiore PoliclinicoMilanItaly

2. Pediatric Highly Intensive Care UnitDepartment of Pathophysiology and TransplantationUniversità degli Studi di MilanoFondazione IRCCS Ca’ Granda Ospedale Maggiore PoliclinicoMilanItaly

3. Developmental Neurology UnitDepartment of Pediatric NeurosciencesFondazione IRCCS Istituto Neurologico Carlo BestaMilanItaly

4. Laboratory of Clinical Pathology and Medical GeneticFondazione IRCCS Istituto Neurologico Carlo BestaMilanItaly

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38155

Reference6 articles.

1. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen‐receptor gene correlates with X chromosome inactivation;Allen R. C.;American Journal of Human Genetics,1992

2. Inheritance of most X-linked traits is not dominant or recessive, just X-linked

3. A family with severe X-linked arthrogryposis

4. ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity

5. ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons

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