2 documents found, page 1 of 1
Chitayat-Hall and Schaaf-Yang syndromes: a common aetiology: expanding the phen...
Jobling, Rebekah; Stavropoulos, Dimitri James; Marshall, Christian R.; Cytrynbaum, Cheryl; Axford, Michelle M.; Londero, Vanessa; Moalem, SharonChitayat-Hall syndrome, initially described in 1990, is a rare condition characterised by distal arthrogryposis, intellectual disability, dysmorphic features and hypopituitarism, in particular growth hormone deficiency. The genetic aetiology has not been identified.
Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders
Correia, Catarina T.; Conceição, Inês C.; Oliveira, Bárbara; Coelho, Joana; Sousa, Inês; Sequeira, Ana F.; Almeida, Joana; Café, Cátia; Duque, FredericoBackground: Validating the potential pathogenicity of copy number variants (CNVs) identified in genome-wide studies of autism spectrum disorders (ASD) requires detailed assessment of case/control frequencies, inheritance patterns, clinical correlations, and functional impact. Here, we characterize a small recurrent duplication in the annexin A1 (ANXA1) gene, identified by the Autism Genome Project (AGP) study. ...