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Rare Cause of West syndrome secondary to Tubulinopathy due to Congenital Symmetric Circumferential Skin Creases (CSCSC) Kunze Type due to a Novel Variant in MAPRE2 Gene

Detalles Bibliográficos
Autores principales: Gowda, Vykuntaraju K., Srinivasan, Varunvenkat M., Reddy, Varsha, Bhat, Maya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9175396/
https://www.ncbi.nlm.nih.gov/pubmed/35693690
http://dx.doi.org/10.4103/aian.AIAN_420_21