Hyperphosphatasia with Mental Retardation Syndrome Due to a Novel Mutation in PGAP3

Hyperphosphatasia with mental retardation syndrome is a heterogeneous genetic condition. Two siblings aged 5 years and 3 years were evaluated for global development delay and facial dysmorphism. A novel missense variant, c.851A>G (p.H284R, NM_033419.3), in PGAP3 was identified using whole-exome s...

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Bibliographic Details
Published in:J Pediatr Genet
Main Authors: Nampoothiri, Sheela, Hebbar, Malavika, Roy, Arun Grace, Kochumon, Sheena P., Bielas, Stephanie, Shukla, Anju, Girisha, Katta M.
Format: Artigo
Language:Inglês
Published: Georg Thieme Verlag KG 2017
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5548534/
https://ncbi.nlm.nih.gov/pubmed/28794914
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0037-1599148
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