Rubinstein-Taybi Syndrome: Clinical and Genetic Analyses of One Case and Literature Review

Rubinstein-Taybi Syndrome: Clinical and Genetic Analyses of One Case and Literature Review

Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant genetic disorder characterized by mental retardation, broad thumbs, and hooked nose and so on. RSTS can cause multiple organ hypoplasia and multiple system hypoplasia (such as endocrine system, digestive system, urinary system, etc.) , an...

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Bibliographic Details
Main Author: Xiaomiao WAN, Ling LI, Changwei LIU, Chaohui SHEN, Liwen WU, Suxian ZHOU
Format: Article
Language:zho
Published: Chinese General Practice Publishing House Co., Ltd 2022-08-01
Series:Zhongguo quanke yixue
Subjects:
rubinstein-taybi syndrome|genetic techniques|dna mutational analysis|genetic association studies|whole exome sequencing|rare diseases|crebbp gene
Online Access:https://www.chinagp.net/fileup/1007-9572/PDF/zx20220177.pdf

Internet

https://www.chinagp.net/fileup/1007-9572/PDF/zx20220177.pdf

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