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Article

Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia.

American journal of medical genetics. Part A - 1 Oct 2017

Porntaveetus Thantrira, Srichomthong Chalurmpon, Suphapeetiporn Kanya, Shotelersuk Vorasuk

Abstract excerpt

Skeletal dysplasias are a complex group of more than 350 disorders with phenotypic and genotypic heterogeneity affecting bone and cartilage growth. We studied a 2-year-old girl and her 21-year-old mother with disproportionate short stature. In addition to typical features of hypochondroplasia found in both patients, the child had deformities of the extremity bones, metaphyseal flares, and bilateral transverse...

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Topics

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Share to Alkaline Phosphatase
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dwarfism

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Share to Limb Deformities, Congenital

Share to Receptor, Fibroblast Growth Factor, Type 3

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Source

Identifiers

PMID: 28763161
DOI: 10.1002/ajmg.a.38370

Genes

ALPL
FGFR3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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