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Biallelic variants in VARS in a family with two siblings with intellectual disability and microcephaly: case report and review of the literature

Two male siblings ages 15 and 10 yr old had similar features of intellectual disability, developmental delay, severe speech impairment, microcephaly, prematurity, and transient elevation of liver enzymes in infancy. Exome sequencing revealed one novel (c.65C>A; p.Ala22Asp) and one ultra-rare (c.3...

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Publicat a:Cold Spring Harb Mol Case Stud
Autors principals: Okur, Volkan, Ganapathi, Mythily, Wilson, Ashley, Chung, Wendy K.
Format: Artigo
Idioma:Inglês
Publicat: Cold Spring Harbor Laboratory Press 2018
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6169829/
https://ncbi.nlm.nih.gov/pubmed/30275004
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a003301
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