A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature

BACKGROUND: SHORT syndrome is a rare genetic disease named with the acronyms of short stature, hyper-extensibility of joints, ocular depression, Rieger anomaly and teething delay. It is inherited in an autosomal dominant manner confirmed by the identification of heterozygous mutations in PIK3R1. Thi...

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Detalles Bibliográficos
Autores principales: Sun, Liying, Zhang, Qianwen, Li, Qun, Tang, Yijun, Wang, Yirou, Li, Xin, Li, Niu, Wang, Jian, Wang, Xiumin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7603772/
https://www.ncbi.nlm.nih.gov/pubmed/33129256
http://dx.doi.org/10.1186/s12881-020-01146-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7603772/
https://www.ncbi.nlm.nih.gov/pubmed/33129256
http://dx.doi.org/10.1186/s12881-020-01146-3

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