Experimental dermatology, 2008-04, Vol.17 (4), p.362-365
2008
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- Autor(en) / Beteiligte
- Titel
- Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2
- Ist Teil von
- Experimental dermatology, 2008-04, Vol.17 (4), p.362-365
- Ort / Verlag
- Oxford, UK: Blackwell Publishing Ltd
- Erscheinungsjahr
- 2008
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- : Shprintzen‐Goldberg syndrome (SGS) is a rare disorder characterized by a Marfan‐like habitus, mental retardation and craniosynostosis. Cardiac abnormalities, such as aortic root dilation have also been noted as well as several skeletal abnormalities. Its nosological status is unclear as it is hard to delineate SGS from similar disorders, such as Furlong, Marfan type II, Camurati‐Engelmann and Loeys‐Dietz syndromes. It has been suggested that these conditions represent a phenotypical spectrum associated with aberrant TGF‐β signalling. In support of this notion, we found a novel TGFBR2 missense mutation in a patient with features of SGS.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0906-6705eISSN: 1600-0625DOI: 10.1111/j.1600-0625.2007.00648.xTitel-ID: cdi_proquest_miscellaneous_70353884
- Format
- –
- Schlagworte
- Abnormalities, Multiple - genetics, Biological and medical sciences, Child, Craniosynostoses - genetics, Dermatology, DNA Mutational Analysis, Heart Defects, Congenital - genetics, Humans, Intellectual Disability - genetics, Loeys-Dietz, Male, Marfan, Medical sciences, Musculoskeletal Abnormalities - genetics, Mutation, Missense, Polymerase Chain Reaction, Protein-Serine-Threonine Kinases - genetics, Receptors, Transforming Growth Factor beta - genetics, Shprintzen-Goldberg, Syndrome, TGFBR2