Unveiling the pathogenic mechanisms of NPR2 missense variants: insights into the genotype-associated severity in acromesomelic dysplasia and short stature

Introduction: Natriuretic peptide receptor 2 (NPR2 or NPR-B) plays a central role in growth development and bone morphogenesis and therefore loss-of-function variations in NPR2 gene have been reported to cause Acromesomelic Dysplasia, Maroteaux type 1 and short stature. While several hypotheses have...

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Autori principali:	Sally Badawi, Divya Saro Varghese, Anjana Raj, Anne John, Hamda S. Al-Musafir, Ahmed J. Al-Ghamari, Alreem R. Alshamsi, Sara H. Ouda, Ghayth Al-Dirbashi, Bassam R. Ali
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Frontiers Media S.A. 2023-11-01
Serie:	Frontiers in Cell and Developmental Biology
Soggetti:	Acromesomelic Dysplasia Maroteaux type (AMDM) cyclic guanosine monophosphate (cGMP) natriuretic peptide receptor 2 (NPR2) protein quality control short stature
Accesso online:	https://www.frontiersin.org/articles/10.3389/fcell.2023.1294748/full
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