PTPN11 mutations in LEOPARD syndrome
PTPN11 mutations in LEOPARD syndrome
About this item
Full title
Author / Creator
Publisher
London: BMJ Publishing Group Ltd
Journal title
Language
English
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Publication information
Publisher
London: BMJ Publishing Group Ltd
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Scope and Contents
Contents
LEOPARD syndrome is an autosomal dominant disorder with multiple lentigines, congenital cardiac abnormalities, ocular hypertelorism, and retardation of growth. Deafness and genital abnormalities are less frequently found. We report a father and daughter and a third, unrelated patient with LEOPARD syndrome. Recently, missense mutations in the PTPN11...
Alternative Titles
Full title
PTPN11 mutations in LEOPARD syndrome
Authors, Artists and Contributors
Author / Creator
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Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1735195
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_1735195
Other Identifiers
ISSN
0022-2593,1468-6244
E-ISSN
1468-6244
DOI
10.1136/jmg.39.8.571
