Neurobehavioral disorders in patients with Aarskog–Scott syndrome affected by novel FGD1 mutations

Attention-deficit/hyperactivity disorder

Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog–Scott syndrome due to a novel FGD1 gene mutation (R408Q)

✍ Alfredo Orrico; Lucia Galli; Sabrina Buoni; Giuseppe Hayek; Anna Luchetti; Stefa 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 105 KB 👁 2 views

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

Detection of six novel FBN1 mutations in

Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome

✍ Paolo Comeglio; Alison L. Evans; Glen W. Brice; Anne H. Child 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 146 KB 👁 1 views

Marfan syndrome (MFS), an autosomal dominant disorder of the extracellular matrix, is due to mutations in fibrillin-1 (FBN1) gene. Investigations carried out in the last decade, unveiled the unpredictability of the site of the mutation, which could be anywhere in the gene. FBN1 mutations have been r

Erratum: Detection of six novel FBN1 mut

Erratum: Detection of six novel FBN1 mutations in British patients affected by Marfan syndrome

✍ Paolo Comeglio; Alison L. Evans; Glen W. Brice; Anne H. Child 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 149 KB 👁 1 views

Marfan syndrome (MFS), an autosomal dominant disorder of the extracellular matrix, is due to mutations in fibrillin-1 (FBN1) gene. Investigations carried out in the last decade, unveiled the unpredictability of the site of the mutation, which could be anywhere in the gene. FBN1 mutations have been r

Molecular detection of novel WFS1 mutati

Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay

✍ Alessia Colosimo; Valentina Guida; Luciana Rigoli; Chiara Di Bella; Alessandro D 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 214 KB 👁 2 views

Wolfram syndrome (WS) is a recessively inherited mendelian form of diabetes and neurodegeneration also known by the acronym DIDMOAD from the major clinical features, including diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. Affected individuals may also show renal tract abnormali