A rare case of PIK3R1 gene mutation associated SHORT syndrome

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Bibliographic Details
Published inChung-hua nei kʿo tsa chih Vol. 64; no. 1; p. 60
Main Authors Zhang, X, Lin, L W H, Xie, L, Chen, K N, Quan, H B
Format Journal Article
LanguageChinese
Published China 01.01.2025
Subjects
Adolescent
Class Ia Phosphatidylinositol 3-Kinase - genetics
Fetal Growth Retardation - diagnosis
Fetal Growth Retardation - genetics
Growth Disorders - diagnosis
Growth Disorders - genetics
Hearing Loss, Sensorineural - diagnosis
Hearing Loss, Sensorineural - genetics
Humans
Hypercalcemia
Insulin Resistance
Lipodystrophy - diagnosis
Lipodystrophy - genetics
Male
Metabolic Diseases
Mutation
Nephrocalcinosis
Phosphatidylinositol 3-Kinases - genetics
Online AccessGet more information
ISSN0578-1426
DOI10.3760/cma.j.cn112138-20240513-00303

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More Information
ISSN:0578-1426
DOI:10.3760/cma.j.cn112138-20240513-00303