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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Detalles Bibliográficos
Autores principales: Wu, Jing, Wang, Mengru, Jiao, Zhouyang, Dou, Binghua, Li, Bo, Zhang, Jianjiang, Zhang, Haohao, Sun, Yue, Tu, Xin, Kong, Xiangdong, Bai, Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8967736/
https://www.ncbi.nlm.nih.gov/pubmed/35368703
http://dx.doi.org/10.3389/fgene.2022.823861

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8967736/
https://www.ncbi.nlm.nih.gov/pubmed/35368703
http://dx.doi.org/10.3389/fgene.2022.823861

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