Hyperphosphatasia with mental retardation syndrome due to a novel mutation in PGAP3

Hebbar, Malavika and Shukla, Anju and Girisha, KM (2017) Hyperphosphatasia with mental retardation syndrome due to a novel mutation in PGAP3. Journal of Pediatric Genetics, 6 (3). pp. 191-193. ISSN 2146-4596

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Abstract

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 sequencing. Assays for elevated alkaline phosphatase and exome sequencing can be useful for the diagnosis of hyperphosphatasia with mental retardation syndrome.

Item Type: Article
Uncontrolled Keywords: Hyperphosphatasia with mental retardation syndrome; PGAP3; exome sequencing; alkaline phosphatase.
Subjects: Medicine > KMC Manipal > Paediatrics
Depositing User: KMC Library
Date Deposited: 31 Aug 2017 07:16
Last Modified: 31 Aug 2017 07:16
URI: http://eprints.manipal.edu/id/eprint/149599

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