De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser–Winter Syndrome

Actin molecules are fundamental for embryonic structural and functional differentiation; γ-actin is specifically required for the maintenance and function of cytoskeletal structures in the ear, resulting in hearing. Baraitser–Winter Syndrome (B-WS, OMIM #243310, #614583) is a rare, multiple-anomaly...

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Detalles Bibliográficos
Autores principales: Dawidziuk, Mateusz, Kutkowska-Kazmierczak, Anna, Bukowska-Olech, Ewelina, Jurek, Marta, Kalka, Ewa, Guilbride, Dorothy Lys, Furmanek, Mariusz Ireneusz, Bekiesinska-Figatowska, Monika, Bal, Jerzy, Gawlinski, Pawel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8776155/
https://www.ncbi.nlm.nih.gov/pubmed/35054877
http://dx.doi.org/10.3390/ijms23020692

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8776155/
https://www.ncbi.nlm.nih.gov/pubmed/35054877
http://dx.doi.org/10.3390/ijms23020692

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