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 |
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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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