HPDL mutations identified by exome sequencing are associated with infant neurodevelopmental disorders

BACKGROUND: Recent research found that biallelic HPDL variants can cause neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), with only a few reports. Clinical phenotypic information on individuals with damaging HPDL variants may also be incomplete....

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Detalles Bibliográficos
Autores principales: Wang, Yanhong, Zheng, Xuan, Feng, Chao, Fan, Xiaoge, Liu, Lei, Guo, Pengbo, Lei, Zhi, Mei, Shiyue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9544218/
https://www.ncbi.nlm.nih.gov/pubmed/35985664
http://dx.doi.org/10.1002/mgg3.2025

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9544218/
https://www.ncbi.nlm.nih.gov/pubmed/35985664
http://dx.doi.org/10.1002/mgg3.2025

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