𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome

✍ Scribed by S Sheikhzadeh; C Kade; B Keyser; M Stuhrmann; M Arslan-Kirchner; M Rybczynski; AM Bernhardt; CR Habermann; M Hillebrand; T Mir; PN Robinson; J Berger; C Detter; S Blankenberg; J Schmidtke; Y von Kodolitsch


Book ID
117948285
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
736 KB
Volume
82
Category
Article
ISSN
0009-9163

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Mutations of FBN1 and genotype–phenotype
✍ Peter N. Robinson; Patrick Booms; Stefanie Katzke; Markus Ladewig; Luitgard Neum 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 174 KB

The Marfan syndrome (MFS) is a pleiotropic, autosomal dominant disorder of connective tissue with highly variable clinical manifestations including aortic dilatation and dissection, ectopia lentis, and a series of skeletal anomalies. Mutations in the gene for fibrillin-1 (FBN1) cause MFS, and at lea

Genotype–phenotype analysis of the branc
✍ Jeff M. Milunsky; Tom M. Maher; Geping Zhao; Zhenyuan Wang; John B. Mulliken; Da 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 203 KB 👁 2 views

## Abstract Branchio‐oculo‐facial syndrome (BOFS; OMIM#113620) is a rare autosomal dominant craniofacial disorder with variable expression. Major features include cutaneous and ocular abnormalities, characteristic facies, renal, ectodermal, and temporal bone anomalies. Having determined that mutati

Analysis of the tricho-dento-osseous syn
✍ Tim Wright, J.; Kula, Katherine; Hall, Kathie; Simmons, Joey H.; Hart, Thomas C. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 63 KB 👁 3 views

The tricho-dento-osseous (TDO) syndrome demonstrates kinky curly hair, thin-pitted enamel, taurodontism, and thickening of cortical bone. The purpose of this investigation was to characterize the phenotypic variation of TDO in 3, previously unreported, kindreds and to examine possible candidates for