Normal early development in siblings with novel compound heterozygous variants in ASPM

Autosomal recessive primary microcephaly 5 (MCPH5) is caused by pathogenic variants in ASPM. Using whole-exome sequencing, we diagnosed two siblings with MCPH5. A known pathogenic variant (NM_018136.4: c.9697C > T, p.(Arg3233*)) and a novel pathogenic variant (c.1402_1406del, p.(Asn468Serfs*2)) o...

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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Moriwaki, Taro, Yamazaki, Narutoshi, So, Tetsumin, Kosuga, Motomichi, Miyazaki, Osamu, Narumi-Kishimoto, Yoko, Kaname, Tadashi, Nishimura, Gen, Okuyama, Torayuki, Fukuhara, Yasuyuki
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2020
Assuntos:
Data Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6943122/
https://ncbi.nlm.nih.gov/pubmed/31934343
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-019-0088-0
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