Opsismodysplasia: Phosphate Wasting Osteodystrophy Responds to Bisphosphonate Therapy

We present two siblings affected with opsismodysplasia (OPS), a rare skeletal dysplasia caused by mutations in the inositol polyphosphate phosphatase-like 1 gene. The skeletal findings include short stature with postnatal onset micromelia, marked platyspondyly, squared metacarpals, delayed skeletal...

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Bibliografske podrobnosti
izdano v:Front Pediatr
Main Authors: Khwaja, Ansab, Parnell, Shawn E., Ness, Kathryn, Bompadre, Viviana, White, Klane K.
Format: Artigo
Jezik:Inglês
Izdano: Frontiers Media S.A. 2015
Teme:
Pediatrics
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4476261/
https://ncbi.nlm.nih.gov/pubmed/26157786
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2015.00048
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