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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2009-3-17
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pubmed:abstractText |
The clinical overlap among Noonan syndrome (NS), cardio-facio-cutaneous (CFC), LEOPARD and Costello syndromes as well as Neurofibromatosis type 1 is extensive, which complicates the process of diagnosis. Further genotype-phenotype correlations are required to facilitate future diagnosis of these patients. Therefore, investigations of the genetic cause of a severe phenotype in a patient with NS and the presence of multiple café-au-lait spots (CAL) spots in the patient and four members of the family were performed.
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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 |
Apr
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pubmed:issn |
1651-2227
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
98
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
693-8
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:19120036-Adult,
pubmed-meshheading:19120036-Cafe-au-Lait Spots,
pubmed-meshheading:19120036-DNA Mutational Analysis,
pubmed-meshheading:19120036-Family,
pubmed-meshheading:19120036-Female,
pubmed-meshheading:19120036-Genes, Neurofibromatosis 1,
pubmed-meshheading:19120036-Genetic Linkage,
pubmed-meshheading:19120036-Genetic Predisposition to Disease,
pubmed-meshheading:19120036-Genotype,
pubmed-meshheading:19120036-Humans,
pubmed-meshheading:19120036-Intracellular Signaling Peptides and Proteins,
pubmed-meshheading:19120036-Membrane Proteins,
pubmed-meshheading:19120036-Mutation,
pubmed-meshheading:19120036-Noonan Syndrome,
pubmed-meshheading:19120036-Phenotype,
pubmed-meshheading:19120036-Protein Tyrosine Phosphatase, Non-Receptor Type 11,
pubmed-meshheading:19120036-Repressor Proteins,
pubmed-meshheading:19120036-Young Adult
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pubmed:year |
2009
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pubmed:articleTitle |
A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins.
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pubmed:affiliation |
Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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