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

In conclusion, we describe a unique case with monoallelic FGFR3 and biallelic ALPL mutations leading to features of both hypochondroplasia and hypophosphatasia.

Source: American Journal of Medical Genetics Part A - August 1, 2017 Category: Genetics & Stem Cells Authors: Thantrira Porntaveetus, Chalurmpon Srichomthong, Kanya Suphapeetiporn, Vorasuk Shotelersuk Tags: CLINICAL REPORT Source Type: research