The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature

The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature

SHORT syndrome is a rare, multisystem disease named with the acronym arising from short stature, hyperextensibility of joints, ocular depression, Rieger anomaly, and teething delay. Metabolic anomalies such as insulin resistance and diabetes are also present. This disease is related to heterozygous...

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Bibliographic Details
Main Authors: Chung-Lin Lee, Chih-Kuang Chuang, Huei-Ching Chiu, Ru-Yi Tu, Yun-Ting Lo, Ya-Hui Chang, Hsiang-Yu Lin, Shuan-Pei Lin
Format: Article
Language:English
Published: Elsevier 2021-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
PIK3R1
Short stature
SHORT syndrome
Whole exome sequencing
Taiwan
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426921000628

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http://www.sciencedirect.com/science/article/pii/S2214426921000628

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