Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the PRUNE1 gene

BACKGROUND: Homozygous or compound heterozygous PRUNE1 mutations cause a neurodevelopmental disorder with microcephaly, hypotonia, and variable brain malformations (NMIHBA) (OMIM #617481). The PRUNE1 gene encodes a member of the phosphoesterase (DHH) protein superfamily that is involved in the regul...

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Detalles Bibliográficos
Autores principales: Gholizadeh, Mehdi Agha, Mohammadi-Sarband, Mina, Fardanesh, Fatemeh, Garshasbi, Masoud
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8981834/
https://www.ncbi.nlm.nih.gov/pubmed/35379233
http://dx.doi.org/10.1186/s12920-022-01228-6

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