Wieacker-Wolff syndrome with associated cleft palate in a female case-Reference-Cited by-同舟云学术

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Wieacker-Wolff syndrome with associated cleft palate in a female case

Published:2017-11-17 Issue:1 Volume:176 Page:167-170
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Godfrey Natalie D.¹^ORCID,Dowlatshahi Samandar¹,Martin Madelena M.²³,Rothkopf Douglas M.¹

Affiliation:

1. Division of Plastic Surgery; University of Massachusetts Medical Center; Worcester Massachusetts

2. Division of Genetics; University of Massachusetts Medical Center; Worcester Massachusetts

3. Department of Pediatrics; Division of Genetics; UC Davis Medical Center; Sacramento California

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference9 articles.

1. ZC4H2 mutations are associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through impairment of central and peripheral synaptic plasticity;Hirata;American Journal of Human Genetics,2013

2. Arthrogryposis multiplexa congenita: An epidemiologic study of nearly 9 million births in 24 EUROCAT registers;Hoff;European Journal of Obstetrics, Gynecology, and Reproductive Biology,2011

3. Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus;Holman;Clinical Genetics,2013

4. Localization of the gene for Wieacker-Wolff syndrome in the pericentromeric region of the X chromosome;Kloos;Human Genetics,1997

5. ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons;May;Human Molecular Genetics,2015

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1. Genotype-Phenotype Correlations and Sex Differences in ZC4H2-Associated Rare Disorder;Pediatric Neurology;2024-09

2. Why Craniofacial Surgeons/Researchers Need to be Aware of Native American Myopathy?;Neuropediatrics;2024-02-20

3. Clinical case of Wieacker–Wolff syndrome in a 5-year girl;L.O. Badalyan Neurological Journal;2023-08-30

4. Optic nerve abnormalities in female-restricted Wieacker-Wolff syndrome by a novel variant in the ZC4H2 gene;Ophthalmic Genetics;2023-07-31

5. Expanding allelic and phenotypic spectrum of ZC4H2‐related disorder: A novel hypomorphic variant and high prevalence of tethered cord;Clinical Genetics;2022-10-31

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