## Communicated by Alastair F. Brown The implication of mutations in the TGFBR2 gene, known to be involved in cancers, in Marfan syndrome (MFS) and later in Loeys-Dietz syndrome (LDS) and Familial Thoracic Aortic Aneurysms and Dissections (TAAD2) gives a new example of the complexity of one gene i
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations
✍ Scribed by Melissa Yana Frédéric; Christine Monino; Christoph Marschall; Dalil Hamroun; Laurence Faivre; Guillaume Jondeau; Hanns-Georg Klein; Luitgard Neumann; Elodie Gautier; Christine Binquet; Cheryl Maslen; Maurice Godfrey; Prateek Gupta; Dianna Milewicz; Catherine Boileau; Mireille Claustres; Christophe Béroud; Gwenaëlle Collod-Béroud
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 340 KB
- Volume
- 30
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
✦ Synopsis
Communicated by A. Jamie Cuticchia
📜 SIMILAR VOLUMES
Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant condition characterised by the presence of facial fibrofolliculomas, pulmonary cysts which may be associated with spontaneous pneumothorax and renal tumours. Germline mutations in the gene Folliculin (FLCN) were first identified in BHD patients