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Article

[Analysis of TGM1 gene mutation in a collodion baby].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2018

Han Rui, Duan Ling, Wu Shuang, Liu Xiaoran

Abstract excerpt

OBJECTIVE: To explore the genetic cause for a Uyghur Chinese child with collodion skin. METHODS: G-banded chromosomal karyotyping was carried out for the child and his parents. High-throughput sequencing for 25 genes related to ichthyosis and ichthyosiform dermatosis was also performed for the child. RESULTS: No karyotypic abnormality was found in the child and his parents. High-throughput sequencing has detected...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29653007
DOI: 10.3760/cma.j.issn.1003-9406.2018.02.027

Genes

TGM1

Variants

Provenance

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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