Article
[Analysis of clinical features and genetic variants in an infant with Bloom syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jul 2020
Shan Yanchun, Yang Zhaochuan, Yang Xiaoyan, Lei Ke, Fu Peng, Yi Mingji, Ma Liang, Ran Ni
Abstract excerpt
OBJECTIVE: To analyze the clinical features and genetic variants in a 13-month-old child with Bloom syndrome. METHODS: Clinical data of the child was collected. Genetic variants were detected by high-throughput sequencing and Sanger sequencing. RESULTS: The child was born at full term but was small for gestational age. His clinical features included loss of appetite, severe growth retardation, microcephaly, and...
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