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Molecular study of 33 families with Fraser syndrome new data and mutation review
American journal of medical genetics. Part A, 2008-09, Vol.146A (17), p.2252-2257
van Haelst, M.M.
Maiburg, M.
Baujat, G.
Jadeja, S.
Monti, E.
Bland, E.
Pearce, K.
Hennekam, R.C.
Scambler, P.J.
2008
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
van Haelst, M.M.
Maiburg, M.
Baujat, G.
Jadeja, S.
Monti, E.
Bland, E.
Pearce, K.
Hennekam, R.C.
Scambler, P.J.
Titel
Molecular study of 33 families with Fraser syndrome new data and mutation review
Ist Teil von
American journal of medical genetics. Part A, 2008-09, Vol.146A (17), p.2252-2257
Ort / Verlag
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Erscheinungsjahr
2008
Quelle
Wiley-Blackwell Journals
Beschreibungen/Notizen
Fraser syndrome (FS) is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract. FS is considered to be the human equivalent of the murine blebbing mutants: in the mouse mutations at five loci cause a phenotype that is comparable to FS in humans, and thus far mutations in two syntenic human genes, FRAS1 and FREM2, have been identified to cause FS. Here we present the molecular analysis of 48 FS patients from 18 consanguineous and 15 nonconsanguineous families. Linkage analysis in consanguineous families indicated possible linkage to FRAS1 and FREM2 in 60% of the cases. Mutation analysis identified 11 new mutations in FRAS1 and one FREM2 mutation. Manifestations of these patients and previously reported cases with an FRAS1 mutation were compared to cases without detectable FRAS1 mutations to study genotype–phenotype correlations. Although our data suggest that patients with an FRAS1 mutation have more frequently skull ossification defects and low insertion of the umbilical cord, these differences are not statistically significant. Mutations were identified in only 43% of the cases suggesting that other genes syntenic to murine genes causing blebbing may be responsible for FS as well. © 2008 Wiley‐Liss, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1552-4825
eISSN: 1552-4833
DOI: 10.1002/ajmg.a.32440
Titel-ID: cdi_proquest_miscellaneous_69479499
Format
–
Schlagworte
Abnormalities, Multiple - genetics
,
Biological and medical sciences
,
Consanguinity
,
cryptophtalmos
,
DNA Mutational Analysis
,
Extracellular Matrix Proteins - genetics
,
Eyelids - abnormalities
,
FRAS1/FREM2 mutations
,
Fraser syndrome
,
Genetic Linkage
,
Genotype
,
genotype-phenotype correlation
,
Humans
,
Malformations of the eye
,
Medical genetics
,
Medical sciences
,
Ophthalmology
,
Phenotype
,
Syndactyly - genetics
,
Syndrome
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