✦ LIBER ✦

Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients

✍ Scribed by Orrico, Alfredo; Galli, Lucia; Cavaliere, Maria Luigia; Garavelli, Livia; Fryns, Jean-Pierre; Crushell, Ellen; Rinaldi, Maria Michela; Medeira, Ana; Sorrentino, Vincenzo

Book ID: 110025492
Publisher: Nature Publishing Group
Year: 2003
Tongue: English
Weight: 138 KB
Volume: 12
Category: Article
ISSN: 1018-4813
DOI: 10.1038/sj.ejhg.5201081

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Unusually severe expression of craniofac

Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene

✍ A. Orrico; L. Galli; M.G. Obregon; M.F. de Castro Perez; M. Falciani; V. Sorrent 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 228 KB 👁 3 views

## Abstract Aarskog‐Scott syndrome (AAS) is a rare, clinically and genetically heterogeneous condition characterized by facial dysmorphic features, short stature, brachydactyly, and genital anomalies. The X‐linked form is caused by mutations of the __FGD1__ gene. Although clinical manifestations an

Unilateral focal polymicrogyria in a pat

Unilateral focal polymicrogyria in a patient with classical Aarskog–Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1

✍ Armand Bottani; Alfredo Orrico; Lucia Galli; Olivier Karam; Charles-André Haengg 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 224 KB 👁 2 views

Molecular analysis of the MVK and TNFRSF

Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: A low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa

✍ Silvia Stojanov; Peter Lohse; Pia Lohse; Florian Hoffmann; Ellen D. Renner; Step 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 304 KB 👁 3 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).