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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
12
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pubmed:dateCreated |
2010-11-25
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pubmed:abstractText |
Macrocephaly-capillary malformation (M-CM) is a genetic syndrome of unknown etiology characterized by an enlarged head circumference and patchy, reticular capillary malformation. We describe the clinical features of 13 cases, report on the genome-wide Copy Number Variation characterization of these patients, analyze the main clinical features of this syndrome and propose a modification of the current diagnostic criteria: the inclusion of both overgrowth/asymmetry and neuroimaging alterations as major criteria.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
1552-4833
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pubmed:author |
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pubmed:copyrightInfo |
© 2010 Wiley-Liss, Inc.
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pubmed:issnType |
Electronic
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pubmed:volume |
152A
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
3101-6
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pubmed:meshHeading |
pubmed-meshheading:21077203-Abnormalities, Multiple,
pubmed-meshheading:21077203-Adolescent,
pubmed-meshheading:21077203-Capillaries,
pubmed-meshheading:21077203-Child,
pubmed-meshheading:21077203-Child, Preschool,
pubmed-meshheading:21077203-DNA Copy Number Variations,
pubmed-meshheading:21077203-Gene Frequency,
pubmed-meshheading:21077203-Genetic Markers,
pubmed-meshheading:21077203-Genotype,
pubmed-meshheading:21077203-Humans,
pubmed-meshheading:21077203-Macrocephaly,
pubmed-meshheading:21077203-Male,
pubmed-meshheading:21077203-Port-Wine Stain,
pubmed-meshheading:21077203-Skin Diseases, Vascular,
pubmed-meshheading:21077203-Syndrome,
pubmed-meshheading:21077203-Telangiectasis
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pubmed:year |
2010
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pubmed:articleTitle |
Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria.
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pubmed:affiliation |
Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario La Paz, Madrid, Spain. vmartinezg.hulp@salud.madrid.org
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pubmed:publicationType |
Journal Article,
Case Reports
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