A case of Chopra-Amiel-Gordon syndrome with a novel heterozygous variant in the ANKRD17 gene: A case report

Chopra-Amiel-Gordon syndrome (OMIM: 619504) is an autosomal dominant neurodevelopmental disorder characterized by developmental delay, intellectual disability, speech delay, epilepsy, dysmorphic craniofacial features, ophthalmological abnormalities, and recurrent infections. It is caused by heterozy...

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Detalles Bibliográficos
Autores principales: Tinatin, Tkemaladze, Kakha, Bregvadze, Mikheil, Gogoberishvili, Tamari, Sopromadze-Diebold, Elene, Abzianidze
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10338725/
https://www.ncbi.nlm.nih.gov/pubmed/37456926
http://dx.doi.org/10.1177/2050313X231186496

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10338725/
https://www.ncbi.nlm.nih.gov/pubmed/37456926
http://dx.doi.org/10.1177/2050313X231186496

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