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[Clinical phenotype and genetic analysis of a child featuring short stature and multiple skeletal dysplasia].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2024

Lyu Yongxue, Qi Fengfeng, Fei Zhenghua, Gao Hanlu, Gu Chunjian

Abstract excerpt

OBJECTIVE: To analyze the clinical phenotype and genetic basis for a child featuring familial short stature. METHODS: A child who was admitted to Huzhou Maternal and Child Health Care Hospital on October 7, 2021 for growth retardation and pectus carinatum was selected as the study subject. Physical exam and medical imaging was performed. The child was subjected to whole exome sequencing, and candidate variants...

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Identifiers

PMID: 38311568
DOI: 10.3760/cma.j.cn511374-20230511-00277

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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