Identification of novel variations of oculocutaneous albinism type 2 with Prader–Willi syndrome/Angelman syndrome in two Chinese families

Objective: Oculocutaneous albinism (OCA) is an autosomal recessive disorder caused by a variety of genomic variations. Our aim is to identify the molecular basis of OCA in two families and lay the foundation for prenatal diagnosis. Methods: Four types of OCA-causing mutations in the TYR, p, TYRP1, o...

Descripción completa

Detalles Bibliográficos
Autores principales: Chen, XiaoFei, Fang, ZiShui, Pang, Ting, Li, DongZhi, Lei, Jie, Jiang, WeiYing, Li, HongYi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10025288/
https://www.ncbi.nlm.nih.gov/pubmed/36950135
http://dx.doi.org/10.3389/fgene.2023.1135698

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10025288/
https://www.ncbi.nlm.nih.gov/pubmed/36950135
http://dx.doi.org/10.3389/fgene.2023.1135698

Ejemplares similares