Source:http://linkedlifedata.com/resource/pubmed/id/15327534
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
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pubmed:dateCreated |
2004-8-25
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pubmed:abstractText |
There is increasing evidence that hypomelanosis of Ito and related disorders such as linear and whorled naevoid hypermelanosis are due to mosaicism for a variety of chromosomal abnormalities. This group of disorders is better termed 'pigmentary mosaicism'. In this review we explain how disparate chromosomal abnormalities might manifest as a common pigmentary phenotype. In particular, we provide evidence supporting the hypothesis that the chromosomal abnormalities reported in these disorders specifically disrupt expression or function of pigmentary genes.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
0007-0963
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
151
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
269-82
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pubmed:dateRevised |
2005-11-17
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pubmed:meshHeading |
pubmed-meshheading:15327534-Chromosomes, Human, X,
pubmed-meshheading:15327534-DNA Transposable Elements,
pubmed-meshheading:15327534-Databases, Factual,
pubmed-meshheading:15327534-Female,
pubmed-meshheading:15327534-Genomic Imprinting,
pubmed-meshheading:15327534-Humans,
pubmed-meshheading:15327534-Hypopigmentation,
pubmed-meshheading:15327534-Karyotyping,
pubmed-meshheading:15327534-Male,
pubmed-meshheading:15327534-Mosaicism,
pubmed-meshheading:15327534-Phenotype,
pubmed-meshheading:15327534-Pigmentation,
pubmed-meshheading:15327534-Translocation, Genetic
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pubmed:year |
2004
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pubmed:articleTitle |
Abnormal pigmentation in hypomelanosis of Ito and pigmentary mosaicism: the role of pigmentary genes.
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pubmed:affiliation |
Department of Dermatology, Birmingham Children's Hospital, Birmingham, UK. s.taibjee@virgin.net
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pubmed:publicationType |
Journal Article,
Review
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