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Report of a Homozygous Nonsense Variant in the WDR91 Gene Associated With Severe Communicating Hydrocephalus, Dandy Walker Malformation, and Cerebellar Hypoplasia

Year: 2026

Type: article

Study design: Case Report

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.70228

Authors: Rhea Shriyan, Tushar Kachhadiya, Rishi Sharma, Shwetal Patel, Salil Vaniawala, Vasundhara P. Tamhankar, Pramila Menon, Shalin Vaniawala, Shilpa Mithbawkar, Parag M. Tamhankar

Institutions: Safdarjang Hospital, Vardhman Mahavir Medical College & Safdarjung Hospital, Holy Family Hospital, Rainbow Children's Hospital, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D.Y. Patil Vidyapeeth, Pune

Language: English

Topic: Fetal and Pediatric Neurological Disorders

Subfield: Pediatrics, Perinatology and Child Health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W7165120989

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Cites: 23

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