Article
Growth-Promoting Therapies May Be Useful In Short Stature Patients With Nonspecific Skeletal Abnormalities Caused By Acan Heterozygous Mutations: Six Chinese Cases And Literature Review.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists - 1 Nov 2020
Liang Hanting, Miao Hui, Pan Hui, Yang Hongbo, Gong Fengying, Duan Lian, Chen Shi, Wang Linjie, Zhu Huijuan
Abstract excerpt
OBJECTIVE: There are numerous reasons for short stature, including mutations in osteochondral development genes. ACAN, one such osteochondral development gene in which heterozygous mutations can cause short stature, has attracted attention from researchers in recent years. Therefore, we analyzed six cases of short stature with heterozygous ACAN mutations and performed a literature review. METHODS: Clinical...
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