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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 |
2001-12-25
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pubmed:abstractText |
We report two patients with clinical and radiological findings of achondroplasia, who had the most common FGFR3 mutation occurring in thanatophoric dysplasia type I and hypochondroplasia, respectively. Thanatophoric dysplasia is usually a lethal condition, but the patient carrying this mutation is alive and presents a medical history similar to that of patients with achondroplasia. The events leading to such a discrepancy between genotype and phenotype are unclear. These rare cases may influence an appropriate medical and genetic counseling.
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pubmed:commentsCorrections |
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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 |
0148-7299
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pubmed:author |
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pubmed:copyrightInfo |
Copyright 2001 Wiley-Liss, Inc.
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pubmed:issnType |
Print
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pubmed:day |
15
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pubmed:volume |
104
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
277-81
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:11754059-Achondroplasia,
pubmed-meshheading:11754059-Base Sequence,
pubmed-meshheading:11754059-DNA,
pubmed-meshheading:11754059-DNA Mutational Analysis,
pubmed-meshheading:11754059-Humans,
pubmed-meshheading:11754059-Infant, Newborn,
pubmed-meshheading:11754059-Male,
pubmed-meshheading:11754059-Mutation, Missense,
pubmed-meshheading:11754059-Phenotype,
pubmed-meshheading:11754059-Protein-Tyrosine Kinases,
pubmed-meshheading:11754059-Receptor, Fibroblast Growth Factor, Type 3,
pubmed-meshheading:11754059-Receptors, Fibroblast Growth Factor,
pubmed-meshheading:11754059-Thanatophoric Dysplasia
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pubmed:year |
2001
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pubmed:articleTitle |
Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype.
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pubmed:affiliation |
Department of Pediatrics and Regional Center of Hand Surgery, San Paolo Hospital, Savona, Italy.
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pubmed:publicationType |
Journal Article,
Case Reports
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