2018年6月30日星期六

Heterozygous Mutations in Natriuretic Peptide Receptor‐B (NPR2) Gene as a Cause of Short Stature

Heterozygous Mutations in Natriuretic Peptide Receptor‐B (NPR2) Gene as a Cause of Short Stature

SR Wang, CM Jacobsen, H Carmichael… - Human …, 2015 - Wiley Online Library
Based on the observation of reduced stature in relatives of patients with acromesomelic
dysplasia, Maroteaux type (AMDM), caused by homozygous or compound heterozygous
mutations in natriuretic peptide receptor-B gene (NPR2), it has been suggested that …


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