Genetic and prenatal diagnosis of a Chinese pedigree with pathogenic TOE1 variants causing pontocerebellar hypoplasia type 7
Author:
Affiliation:
1. Dongguan Maternal and Child Health Care Hospital, Dongguan, P.R. China
2. Department of Medical Genetics, Dongguan Maternal and Child Health Care Hospital, Dongguan, P.R. China
Funder
Dongguan Social Development Project
Publisher
Informa UK Limited
Subject
Obstetrics and Gynecology,Pediatrics, Perinatology and Child Health
Link
https://www.tandfonline.com/doi/pdf/10.1080/14767058.2023.2250895
Reference17 articles.
1. Pontocerebellar hypoplasia: Clinical, pathologic, and genetic studies
2. Clinico-radiological profile of children with pontocerebellar hypoplasia
3. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia
4. What’s new in pontocerebellar hypoplasia? An update on genes and subtypes
5. Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis
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