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Last Updated: 10/31/2025
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Found 9 publications
A case of female-restricted Wieacker-Wolff syndrome with heart and endocrinological involvement.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: December 20, 2023
Loss of Protein Function Causing Severe Phenotypes of Female-Restricted Wieacker Wolff Syndrome due to a Novel Nonsense Mutation in the ZC4H2 Gene.
Journal: Genes
Published: July 29, 2022
Ophthalmic abnormalities in Wieacker-Wolff syndrome.
Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
Published: August 18, 2021
A 7-year old female with arthrogryposis multiplex congenita, Duane retraction syndrome, and Marcus Gunn phenomenon due to a ZC4H2 gene mutation: a clinical presentation of the Wieacker-Wolff syndrome.
Journal: Ophthalmic genetics
Published: May 05, 2021
A case report of rare ZC4H2-associated disorders associated with three large hernias.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: September 09, 2019
A novel de novo nonsense mutation in ZC4H2 causes Wieacker-Wolff Syndrome.
Journal: Molecular genetics & genomic medicine
Published: July 05, 2019
Wieacker-Wolff syndrome with associated cleft palate in a female case.
Journal: American journal of medical genetics. Part A
Published: January 02, 2017
ZC4H2 deletions can cause severe phenotype in female carriers.
Journal: American journal of medical genetics. Part A
Published: July 17, 2016
Showing 1-9 of 9
Last Updated: 10/31/2025