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[Analysis of a pedigree affected with HSAS syndrome due to a noval variant of L1CAM gene].

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

Hong Zhidan, Ma Ling, Mao Yanhong

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a fetus with hydrocephalus. METHODS: The fetus was found to have hydrocephalus upon ultrasonography duringthe second trimester. Following induced abortion, fetal tissue was collected for the extraction of DNA and whole exome sequencing.Sanger sequencing was used to verify the suspected variants in the family. RESULTS: The fetus was found to harbor a hemizygous c.620A>G...

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Identifiers

PMID: 33423266
DOI: 10.3760/cma.j.cn511374-20200113-00024

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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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