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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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Publicado no: | Hum Genome Var |
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Main Authors: | , , , , , , , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Nature Publishing Group UK
2020
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Assuntos: | |
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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