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[Identification of a child with Teebi hypertelorism syndrome 1 due to variant of SPECC1L gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Aug 2023

Li Zhiying, Wang Yirou, Li Xin, Feng Biyun, Gu Shili, Yang Fan, Chang Guoying, Wang Jian, Wang Xiumin

Abstract excerpt

OBJECTIVE: To explore the clinical characteristics and genetic basis of a child with Teebi hypertelorism syndrome 1 (TBHS1). METHODS: A child with TBHS1 who was admitted to the Children's Medical Center Affiliated to Shanghai Jiao Tong University School of Medicine on July 13, 2021 was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and his parents...

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Identifiers

PMID: 37532501
DOI: 10.3760/cma.j.cn511374-20220823-00574

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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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