Tag : Siblings

Neurology

CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability.

Newsemia
Related Articles CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability. Eur J Med Genet. 2018 Dec 30;:...
Neurology

Congenital hyperinsulinism in two siblings with ABCC8 mutation: same genotype, different phenotypes.

Newsemia
Related Articles Congenital hyperinsulinism in two siblings with ABCC8 mutation: same genotype, different phenotypes. Arch Endocrinol Metab. 2018 Oct;62(5):560-565 Authors: Sousa-Santos F, Simões H, Castro-Feijóo...

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