Disease: Miles-Carpenter x-linked mental retardation syndrome
- 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
- A case of female-restricted Wieacker-Wolff syndrome with heart and endocrinological involvement
- A case report of rare ZC4H2-associated disorders associated with three large hernias
- A novel de novo nonsense mutation in ZC4H2 causes Wieacker-Wolff Syndrome
- Loss of Protein Function Causing Severe Phenotypes of Female-Restricted Wieacker Wolff Syndrome due to a Novel Nonsense Mutation in the <em>ZC4H2</em> Gene
- Ophthalmic abnormalities in Wieacker-Wolff syndrome
- Optic nerve abnormalities in female-restricted Wieacker-Wolff syndrome by a novel variant in the ZC4H2 gene
- Wieacker-Wolff syndrome with associated cleft palate in a female case
- ZC4H2 deletions can cause severe phenotype in female carriers