The Spectrum of ACAN Gene Mutations in a Selected Chinese Cohort of Short Stature: Genotype-Phenotype Correlation

Objective: Mutations in the ACAN gene have been reported to cause short stature. However, the prevalence estimates of pathogenic ACAN variants in individuals with short stature vary, and the correlation between ACAN genotype and clinical phenotype remain to be evaluated. To determine the prevalence...

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Detalles Bibliográficos
Autores principales: Wu, Su, Wang, Chunli, Cao, Qing, Zhu, Ziyang, Liu, Qianqi, Gu, Xinyan, Zheng, Bixia, Zhou, Wei, Jia, Zhanjun, Gu, Wei, Li, Xiaonan
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/PMC9127616/
https://www.ncbi.nlm.nih.gov/pubmed/35620465
http://dx.doi.org/10.3389/fgene.2022.891040

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9127616/
https://www.ncbi.nlm.nih.gov/pubmed/35620465
http://dx.doi.org/10.3389/fgene.2022.891040

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