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Article

A compound heterozygous GNPTAB mutation causes mucolipidosis II with marked hair color change in a Han Chinese baby.

American journal of medical genetics. Part A - 1 Apr 2011

Ma Gwo-Chin, Ke Yu-Yuan, Chang Shun-Ping, Lee Dong-Jay, Chen Ming

Abstract excerpt

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21416587
DOI: 10.1002/ajmg.a.33834

Genes

GNPTAB

Provenance

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A compound heterozygous GNPTAB mutation causes mucolipidosis II with marked hair color change in a Han Chinese baby.PMID 21416587Read ↗

A novel splice site mutation in the GNPTAB gene in an Iranian patient with mucolipidosis II α/β.Semantic proximity Read ↗

Identification of two novel variants in GNPTAB underlying mucolipidosis II in a Pakistani family.Semantic proximity Read ↗

Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis.Semantic proximity Read ↗

Mucolipidosis in a Chinese family with compound heterozygous mutations at the GNPTAB gene.Semantic proximity Read ↗

UDP-GlcNAc-1-Phosphotransferase Is a Clinically Important Regulator of Human and Mouse Hair Pigmentation.Semantic proximity Read ↗

Clinical and molecular characteristics of 20 Chinese probands with Mucolipidosis type II and III alpha/beta.Semantic proximity Read ↗

Looking through the Glass: Microspherophakia with LTBP2 Mutation in Siblings.Semantic proximity Read ↗

White-based brown (Tyrp1B-w) is a dominant mutation causing reduced hair pigmentation owing to a chromosomal inversion.Semantic proximity Read ↗

A homozygous Y131X GPNMB mutation in a Chinese family with amyloidosis cutis dyschromica.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 ↗

Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis.Semantic proximity Read ↗

[Amyloidosis cutis dyschromica due to homozygous variants of the GPNMB gene in a Chinese pedigree].Semantic proximity Read ↗

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