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[Analysis of a child with holoprosencephaly due to variant of SIX3 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jul 2021

Zeng Hong, Xiao Ziwen, Xu Yongzhe, Qian Wen, Pan Wei, Zhao Danqing

Abstract excerpt

OBJECTIVE: To explore the genetic basis of a child with holoprosencephaly. METHODS: Genomic DNA of the child was extracted and subjected to whole exome sequencing. Suspected variant was verified by Sanger sequencing of her family members. RESULTS: Cranial MRI suggested lobulated holoprosencephaly with partial absence of corpus callosum. Genetic testing revealed that she has carried a heterozygous c.517C>G...

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Identifiers

PMID: 34247371
DOI: 10.3760/cma.j.cn511374-20200429-00315

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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