Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Gene mutation analysis of a collodion baby].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Sept 2009

Dian Yan, Meng Yan, Wang Zheng, Peng Yuan-yuan, Zhou Qing, Li Xiao-qiao, Su Liang, Huang Shang-zhi

Abstract excerpt

OBJECTIVE: To determine the mutations pattern of the genes of a collodion baby. METHODS: Collodion baby is a genetic heterogeneous disease caused by mutations of several genes. Since the most common mutations were observed in TGM1 gene, this gene was chosen for mutation screening. The screening w...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Sequence Analysis
Share to Sequence Deletion
Share to Genes, Recessive

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Ichthyosis, Lamellar

Share to Point Mutation

Share to DNA Mutational Analysis

Source

Identifiers

PMID: 20021785

Genes

TGM1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20021785-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 11 closest

[Gene mutation analysis of a collodion baby].PMID 20021785Read ↗

[Novel compound heterozygous mutations of TGM1 gene identified in a Chinese collodion baby].Semantic proximity Read ↗

[Analysis of TGM1 gene mutation in a collodion baby].Semantic proximity Read ↗

A novel TGM1 splicing mutation in a collodion baby with cicatricial ectropion.Semantic proximity Read ↗

[Analysis of TMC1 gene variants and prenatal diagnosis in four Chinese families affected with deafness].Semantic proximity Read ↗

[Analysis of 20 mutation sites in 4 genes in neonates in Shaoguan City].Semantic proximity Read ↗

[Analysis of TCIRG1 gene mutation in a Chinese family affected with infantile malignant osteopetrosis].Semantic proximity Read ↗

Acral self-healing collodion baby: report of a new clinical phenotype caused by a novel TGM1 mutation.Semantic proximity Read ↗

[Variation analysis of EPG5 gene in a Vici syndrome family].Semantic proximity Read ↗

[Single-nucleotide polymorphisms of MAMLD1 and hypospadias in Chinese].Semantic proximity Read ↗

[The gene mutation screening of a family with congenital fibrosis of the extraocular muscles associated with corpus callosum agenesis].Semantic proximity Read ↗

[A novel KIT gene mutation from a family with piebaldism in the southern part of China].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.