Case Report: A Paternal 20q13.2-q13.32 Deletion Patient With Growth Retardation Improved by Growth Hormone

Interstitial chromosome 20q deletions, containing GNAS imprinted locus, are rarely reported in the past. Hereby, we presented a Chinese boy with a novel 4.36 Mb deletion at paternal 20q13.2-13.32, showing feeding difficulty, malnutrition, short stature, lower limb asymmetry, sightly abnormal facial...

Descripción completa

Detalles Bibliográficos
Autores principales: Liu, Yu, Yang, Ying, Chu, Liming, Ren, Shuai, Li, Ying, Gao, Aimin, Wen, Jing, Deng, Wanling, Lu, Yan, Kong, Lingyin, Liang, Bo, Shao, Xiaoshan
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/PMC8987769/
https://www.ncbi.nlm.nih.gov/pubmed/35401665
http://dx.doi.org/10.3389/fgene.2022.859185

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8987769/
https://www.ncbi.nlm.nih.gov/pubmed/35401665
http://dx.doi.org/10.3389/fgene.2022.859185

Ejemplares similares