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Article

Novel mutations of TCTN3/LTBP2 with cellular function changes in congenital heart disease associated with polydactyly.

Journal of cellular and molecular medicine - 1 Dec 2020

Chen Huan-Xin, Yang Zi-Yue, Hou Hai-Tao, Wang Jun, Wang Xiu-Li, Yang Qin, Liu Lin, He Guo-Wei

Abstract excerpt

Congenital heart disease (CHD) associated with polydactyly involves various genes. We aimed to identify variations from genes related to complex CHD with polydactyly and to investigate the cellular functions related to the mutations. Blood was collected from a complex CHD case with polydactyly, and whole exome sequencing (WES) was performed. The CRISPR/Cas9 system was used to generate human pluripotent stem cell...

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Identifiers

PMID: 33098376
DOI: 10.1111/jcmm.15950
PMCID: PMC7753982

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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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