FBN1,TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited-Reference-Cited by-同舟云学术

FBN1,TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited

Published:2006 Issue:10 Volume:140A Page:1047-1058
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Adès L.C.,Sullivan K.,Biggin A.,Haan E.A.,Brett M.,Holman K.J.,Dixon J.,Robertson S.,Holmes A.D.,Rogers J.,Bennetts B.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference32 articles.

1. Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome

2. Segregation of a novelFBN1gene mutation, G1796E, with kyphoscoliosis and radiographic evidence of vertebral dysplasia in three generations

3. , , , , . 2005. FBN1, TGFBR1 and TGFBR2 gene screening in Shprintzen-Goldberg syndrome and in FBN1 mutation-negative Marfan syndrome. Abstracts, 7th International Research Symposium on the Marfan Syndrome (Ghent). p 104.

4. Conditional deletion of the TGF-β type II receptor in Col2a expressing cells results in defects in the axial skeleton without alterations in chondrocyte differentiation or embryonic development of long bones

5. Detection of thirty novelFBN1mutations in patients with Marfan syndrome or a related fibrillinopathy

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