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
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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
## 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).