Novel PIK3R1 mutation of SHORT syndrome: A case report with a 6‐month follow up

SHORT syndrome (short stature, hyperextensibility, ocular depression [deeply set eyes], Rieger anomaly and teething delay) is very rare, with a few cases reported in the literature. We report a case of SHORT syndrome with a novel PIK3R1 mutation (c.2008delT) and complicated with severe insulin resis...

Descripción completa

Detalles Bibliográficos
Autores principales: Yin, Xiaofei, Liu, Jidong, Feng, Ruiying, Xu, Mingyue, Liu, Jinbo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8504897/
https://www.ncbi.nlm.nih.gov/pubmed/33742773
http://dx.doi.org/10.1111/jdi.13549

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8504897/
https://www.ncbi.nlm.nih.gov/pubmed/33742773
http://dx.doi.org/10.1111/jdi.13549

Ejemplares similares