• 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
• ANKRD11 variants: KBG syndrome and beyond
• Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita
• Diagnosis and Therapy of Female Genital Malformations (Part 1). Guideline of the DGGG, OEGGG and SGGG (S2k Level, AWMF Registry Number 015/052, May 2019)
• Diagnosis and Therapy of Female Genital Malformations (Part 2). Guideline of the DGGG, OEGGG and SGGG (S2k Level, AWMF Registry Number 015/052, May 2019)
• Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cord
• 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
• Neuromuscular and Neuroendocrinological Features Associated With <em>ZC4H2</em>-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report
• Ophthalmic abnormalities in Wieacker-Wolff syndrome
• Optic nerve abnormalities in female-restricted Wieacker-Wolff syndrome by a novel variant in the ZC4H2 gene
• Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses
• The effect of second-generation antipsychotic withdrawal on the occurrence of vacuous chewing movements in animal models: A review
• Wieacker-Wolff syndrome with associated cleft palate in a female case
• Wieacker-Wolff syndrome, a distinctive phenotype of arthrogryposis multiplex congenita caused by a "de novo" <em>ZC4H2</em> gene partial deletion
• ZC4H2 deletions can cause severe phenotype in female carriers