𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome

✍ Scribed by Judith Reiber; Yves Sznajer; Elena Guillén Posteguillo; Dietmar Müller; Stanislas Lyonnet; Clarisse Baumann; Walter Just


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

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Exclusion of the branchio-oto-renal synd
✍ Lin, Angela E.; Semina, Elena V.; Daack-Hirsch, Sandra; Roeder, Elizabeth R.; Cu 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 11 KB 👁 2 views

In addition to craniofacial, auricular, ophthalmologic, and oral anomalies, the distinctive phenotype of the branchio-oculo-facial (BOF) syndrome (MIM 113620) includes skin defects in the neck or infra/supra-auricular region. These unusual areas of thin, erythematous wrinkled skin differ from the di

Molecular analysis of the MVK and TNFRSF
✍ Silvia Stojanov; Peter Lohse; Pia Lohse; Florian Hoffmann; Ellen D. Renner; Step 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 304 KB 👁 2 views

## Abstract ## Objective To describe biochemical findings and the spectrum of mevalonate kinase (__MVK__) gene mutations as well as an associated __TNFRSF1A__ low‐penetrance variant in a series of patients with clinical features of the hyperimmunoglobulinemia D with periodic fever syndrome (HIDS).