Primary microcephaly caused by novel compound heterozygous mutations in ASPM

Autosomal recessive primary microcephaly (microcephaly primary hereditary, MCPH) is a genetically heterogeneous rare developmental disorder that is characterized by prenatal onset of abnormal brain growth, which leads to intellectual disability of variable severity. We report a 5-year-old male who p...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Hum Genome Var
Prif Awduron: Okamoto, Nobuhiko, Kohmoto, Tomohiro, Naruto, Takuya, Masuda, Kiyoshi, Imoto, Issei
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group 2018
Pynciau:
Data Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5885039/
https://ncbi.nlm.nih.gov/pubmed/29644084
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2018.15
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