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Publication Type : Journal Article
Thematic Areas : Medical Sciences
Publisher : J Pediatr Genet
Source : J Pediatr Genet, Volume 6, Issue 3, p.191-193 (2017)
Campus : Kochi
School : School of Medicine
Department : Paediatrics
Year : 2017
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.851AG (p.H284R, NM_033419.3), in 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.
Cite this Research Publication : S. Nampoothiri, Hebbar, M., Roy, A. Grace, Kochumon, S. P., Bielas, S., Shukla, A., and Girisha, K. M., “Hyperphosphatasia with Mental Retardation Syndrome Due to a Novel Mutation in .”, J Pediatr Genet, vol. 6, no. 3, pp. 191-193, 2017.