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

A novel splicing mutation of KIT results in piebaldism and auburn hair color in a Chinese family.

BioMed research international - 1 Jan 2013

Yang Yong-jia, Zhao Rui, He Xin-yu, Li Li-ping, Wang Ke-wei, Zhao Liu, Tu Ming, Tang Jin-song, Xie Zhi-guo, Zhu Yi-min

Abstract excerpt

Piebaldism is a rare autosomal dominant disorder of melanocyte development, which is mostly caused by KIT gene. The key characteristics of piebaldism include localized poliosis, congenital leukoderma, and other variable manifestations. The previous study has illustrated that the homogeneous MC1R...

Read the complete abstract on PubMed

Topics

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

Share to Alternative Splicing
Share to Child
Share to China

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hair Color

Share to Mutation

Share to Pedigree

Share to Piebaldism

Share to Proto-Oncogene Proteins c-kit

Source

Open in PubMed Open full text

Identifiers

PMID: 24000325
DOI: 10.1155/2013/689756
PMCID: PMC3755434

Genes

KIT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-24000325-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel splicing mutation of KIT results in piebaldism and auburn hair color in a Chinese family.PMID 24000325Read ↗

KIT-related piebaldism in a Chinese girl.Semantic proximity Read ↗

A Japanese piebald patient with auburn hair colour associated with a novel mutation p.P832L in the KIT gene and a homozygous variant p.I120T in the MC1R gene.Semantic proximity Read ↗

Piebaldism with café-au-lait macules resulting from a novel mutation of KIT gene in a three-generation Chinese family.Semantic proximity Read ↗

A novel mutation of KIT gene results in piebaldism in a Chinese family.Semantic proximity Read ↗

Piebaldism.Semantic proximity Read ↗

A novel KIT missense mutation in one Chinese family with piebaldism.Semantic proximity Read ↗

Report of two Japanese patients with piebaldism including a novel mutation in KIT.Semantic proximity Read ↗

Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism.Semantic proximity Read ↗

Novel mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism.Semantic proximity Read ↗

A novel KIT mutation results in piebaldism with progressive depigmentation.Semantic proximity Read ↗

Molecular basis of human piebaldism.Semantic proximity Read ↗

[Identification of a novel KIT mutation in a Chinese family affected with piebaldism].Semantic proximity Read ↗

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