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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Detalles Bibliográficos
Autores principales: Okur, Volkan, Ganapathi, Mythily, Wilson, Ashley, Chung, Wendy K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2018
Materias:
Rapid Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6169829/
https://www.ncbi.nlm.nih.gov/pubmed/30275004
http://dx.doi.org/10.1101/mcs.a003301

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6169829/
https://www.ncbi.nlm.nih.gov/pubmed/30275004
http://dx.doi.org/10.1101/mcs.a003301

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