McLeod syndrome with a novel XK frameshift mutation: A case report

RATIONALE: McLeod syndrome (MLS) is a rare X-linked neurohematologic disorder caused by loss-of-function mutations in the XK gene. However, variations in the XK gene remain to be elucidated. Here, we report the clinical phenotype and genetic features of a patient with MLS caused by a novel frameshif...

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Detalles Bibliográficos
Autores principales: Xia, Shilin, Yu, Xinrui, Song, Fan, Sun, Bo, Wang, Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2022
Materias:
5300
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8913091/
https://www.ncbi.nlm.nih.gov/pubmed/35451392
http://dx.doi.org/10.1097/MD.0000000000028996

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8913091/
https://www.ncbi.nlm.nih.gov/pubmed/35451392
http://dx.doi.org/10.1097/MD.0000000000028996

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