SHORT syndrome in two Chinese girls: A case report and review of the literature-Reference-Cited by-同舟云学术

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SHORT syndrome in two Chinese girls: A case report and review of the literature

Published:2020-06-29 Issue:9 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Zhang Yanhong¹²,Ji Baolan¹²,Li Jinsheng³,Li Yanying¹²,Zhang Mei¹²,Ban Bo¹²^ORCID

Affiliation:

1. Department of Endocrinology, Affiliated Hospital of Jining Medical University Jining Medical University Jining China

2. Chinese Research Center for Behavior Medicine in Growth and Development Jining China

3. Department of Endocrinology Henan Hongli Hospital Changyuan City China

Funder

Jining Science and Technology Bureau

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1385

Reference17 articles.

1. The SHORT syndrome: further delineation and natural history.

2. Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome

3. SHORT Syndrome with Partial Lipodystrophy Due to Impaired Phosphatidylinositol 3 Kinase Signaling

4. Autosomal dominant PIK3R1 mutations cause SHORT syndrome

5. Mutations in PIK3R1 Cause SHORT Syndrome

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