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Article

[Analysis of a neonate with bullous congenital ichthyosiform erythroderma with next generation sequencing].

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

Lyu Yuqiang, Shi Chuankui, Zhang Kaihui, Gao Min, Liu Yi

Abstract excerpt

OBJECTIVE: To explore the genetic cause and clinical features of a neonate with bullous congenital ichthyosiform erythroderma. METHODS: The patient was examined thoroughly. Following the extraction of genomic DNA, next generation sequencing was performed to analyze the genetic cause. RESULTS: The patient manifested generalized erythema, blistering, and extensive exfoliation of the skin. A heterozygous missence...

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Source

Identifiers

PMID: 29896749
DOI: 10.3760/cma.j.issn.1003-9406.2018.03.029

Genes

KRT10

Variants

Provenance

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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[Analysis of a neonate with bullous congenital ichthyosiform erythroderma with next generation sequencing].PMID 29896749Read ↗

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