𝔖 Bobbio Scriptorium
✦   LIBER   ✦

The face of Noonan syndrome: Does phenotype predict genotype

✍ Scribed by Judith E. Allanson; Axel Bohring; Helmuth-Guenther Dörr; Andreas Dufke; Gabrielle Gillessen-Kaesbach; Denise Horn; Rainer König; Christian P. Kratz; Kerstin Kutsche; Silke Pauli; Salmo Raskin; Anita Rauch; Anne Turner; Dagmar Wieczorek; Martin Zenker


Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
577 KB
Volume
152A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


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

Does the donor mannose-binding lectin ge
✍ Lilian A. Curvelo; Emmeloes de Mare-Bredemeijer; Ilse de Canck; Martine van Thie 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 297 KB

We read with interest the reviews by Ghouri et al. 1 and Martinez et al. 2 Ghouri et al. analyzed the association of nonalcoholic fatty liver disease (NAFLD) with cardiovascular disease (CVD) and concluded that although a diagnosis of NAFLD should prompt diabetes screening, it is insufficient for co