Novel Loss-of-Function Mutations in NPR2 Cause Acromesomelic Dysplasia, Maroteaux Type

Acromesomelic dysplasia, Maroteaux type (AMDM) is a rare skeletal dysplasia characterized by severe disproportionate short stature, short hands and feet, normal intelligence, and facial dysmorphism. Homozygous or compound heterozygous mutations in the natriuretic peptide receptor 2 (NPR2) gene produ...

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Hlavní autoři:	Jing Wu, Mengru Wang, Zhouyang Jiao, Binghua Dou, Bo Li, Jianjiang Zhang, Haohao Zhang, Yue Sun, Xin Tu, Xiangdong Kong, Ying Bai
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Frontiers Media S.A. 2022-03-01
Edice:	Frontiers in Genetics
Témata:	acromesomelic dysplasia maroteaux type natriuretic peptide receptor 2 loss-of-function mutation growth hormone therapy genotype analysis
On-line přístup:	https://www.frontiersin.org/articles/10.3389/fgene.2022.823861/full
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