| pubmed-article:8728687 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:8728687 | lifeskim:mentions | umls-concept:C0022283 | lld:lifeskim |
| pubmed-article:8728687 | lifeskim:mentions | umls-concept:C0795885 | lld:lifeskim |
| pubmed-article:8728687 | lifeskim:mentions | umls-concept:C1512571 | lld:lifeskim |
| pubmed-article:8728687 | pubmed:issue | 3 | lld:pubmed |
| pubmed-article:8728687 | pubmed:dateCreated | 1996-10-10 | lld:pubmed |
| pubmed-article:8728687 | pubmed:abstractText | Hypomelanosis of Ito is a sporadic multisystem disorder known to be associated in many cases with chromosomal mosaicism. While no particular pattern is generally evident for the specific chromosomes involved in such patients, a subgroup of female patients exists in whom the common factor is the presence of a balanced, constitutional X;autosome translocation, with a cytogenetic breakpoint in the pericentromeric region of the X. It is argued here that the phenotype in these cases results not from the interruption of X linked genes but from the presence of mosaic functional disomy of X sequences above the breakpoint. | lld:pubmed |
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| pubmed-article:8728687 | pubmed:language | eng | lld:pubmed |
| pubmed-article:8728687 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8728687 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:8728687 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:8728687 | pubmed:month | Mar | lld:pubmed |
| pubmed-article:8728687 | pubmed:issn | 0022-2593 | lld:pubmed |
| pubmed-article:8728687 | pubmed:author | pubmed-author:HatchwellEE | lld:pubmed |
| pubmed-article:8728687 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:8728687 | pubmed:volume | 33 | lld:pubmed |
| pubmed-article:8728687 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:8728687 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:8728687 | pubmed:pagination | 177-83 | lld:pubmed |
| pubmed-article:8728687 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
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| pubmed-article:8728687 | pubmed:meshHeading | pubmed-meshheading:8728687-... | lld:pubmed |
| pubmed-article:8728687 | pubmed:year | 1996 | lld:pubmed |
| pubmed-article:8728687 | pubmed:articleTitle | Hypomelanosis of Ito and X;autosome translocations: a unifying hypothesis. | lld:pubmed |
| pubmed-article:8728687 | pubmed:affiliation | Wessex Regional Genetics Service, Princess Anne Hospital, Southampton, UK. | lld:pubmed |
| pubmed-article:8728687 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:8728687 | pubmed:publicationType | Review | lld:pubmed |
| pubmed-article:8728687 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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