Article

Clinical, biochemical, and genetic analysis of two Korean patients with Trichorhinophalangeal syndrome type I and growth hormone deficiency

2013-01-01

Abstract excerpt

No abstract is available from the source.

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: aee1ba74-4ac9-56d6-b4a4-0f783c6822b1
DOI: 10.1186/1687-9856-2013-s1-p59
PMCID: PMC3850268

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Clinical, biochemical, and genetic analysis of two Korean patients with Trichorhinophalangeal syndrome type I and growth hormone deficiencyDOI 10.1186/1687-9856-2013-s1-p59Read

Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency.Semantic proximity Read

Clinical and genetic spectrum of trichorhinophalangeal syndrome type I/III in 20 children of Korean origin.Semantic proximity Read

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndromeSemantic proximity Read

Trichorhinophalangeal syndrome, type I.Semantic proximity Read

Tricho-rhino-phalangeal syndrome type I in a Japanese boy.Semantic proximity Read

A novel TRPS1 gene mutation causing trichorhinophalangeal syndrome with growth hormone responsive short stature: a case report and review of the literatureSemantic proximity Read

A Turkish trichothiodystrophy patient with homozygous XPD mutation and genotype-phenotype relationship.Semantic proximity Read

Trichothiodystrophy: Molecular insights and mechanisms of pathogenicity.Semantic proximity Read

A novel missense mutation in the TRPS1 gene underlies trichorhinophalangeal syndrome type III.Semantic proximity Read

Novel ERCC2 variant in trichothiodystrophy infant: the first case report in China.Semantic proximity Read

New clinico-genetic classification of trichothiodystrophy.Semantic proximity Read

Trichorhinophalangeal syndrome: Report of a novel familial TRPS1 mutation.Semantic proximity Read