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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2004-3-1
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pubmed:abstractText |
Nonsyndromic hypertrophic cardiomyopathy (HCM) is a primary cardiac disease transmitted as an autosomal dominant trait. Multiple chromosomal loci have been found to be involved in the etiology of this defect. LEOPARD syndrome is a genetic condition characteristically associated with HCM. Additional features of the syndrome include multiple lentigines, facial anomalies, sensorineural deafness, and growth retardation. Mutations in PTPN11, a gene encoding the protein tyrosine phosphatase SHP-2 located at chromosome 12q24, have been identified in patients with LEOPARD syndrome.
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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 |
Feb
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pubmed:issn |
1542-0752
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pubmed:author |
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pubmed:copyrightInfo |
Copyright 2004 Wiley-Liss, Inc.
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pubmed:issnType |
Print
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pubmed:volume |
70
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
95-8
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pubmed:dateRevised |
2007-11-15
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pubmed:meshHeading |
pubmed-meshheading:14991917-Adult,
pubmed-meshheading:14991917-Cardiomyopathy, Hypertrophic,
pubmed-meshheading:14991917-Child,
pubmed-meshheading:14991917-Child, Preschool,
pubmed-meshheading:14991917-Echocardiography,
pubmed-meshheading:14991917-Genetic Heterogeneity,
pubmed-meshheading:14991917-Humans,
pubmed-meshheading:14991917-Infant,
pubmed-meshheading:14991917-Intracellular Signaling Peptides and Proteins,
pubmed-meshheading:14991917-LEOPARD Syndrome,
pubmed-meshheading:14991917-Male,
pubmed-meshheading:14991917-Mutation, Missense,
pubmed-meshheading:14991917-Phenotype,
pubmed-meshheading:14991917-Protein Tyrosine Phosphatase, Non-Receptor Type 11,
pubmed-meshheading:14991917-Protein Tyrosine Phosphatases
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pubmed:year |
2004
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pubmed:articleTitle |
Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations.
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pubmed:affiliation |
Medical Genetics, Bambino Gesù Hospital, Rome, Italy. digilio@opbg.net
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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