Publicaties
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Gerard David: triptych with the baptism of Christ Universiteit Gent
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus Universiteit Gent Universiteit Antwerpen
A detailed clinical analysis of 13 patients with AUTS2 syndrome further delineates the phenotypic spectrum and underscores the behavioural phenotype Universiteit Antwerpen
Background AUTS2 syndrome is an 'intellectual disability (ID) syndrome' caused by genomic rearrangements, deletions, intragenic duplications or mutations disrupting AUTS2. So far, 50 patients with AUTS2 syndrome have been described, but clinical data are limited and almost all cases involved young children. Methods We present a detailed clinical description of 13 patients (including six adults) with AUTS2 syndrome who have a pathogenic mutation ...
Severe congenital cutis laxa : Identification of novel homozygous LOX gene variants in two families Universiteit Gent
Clinical and molecular delineation of cutis laxa syndromes : paradigms for elastic fiber homeostasis Universiteit Gent
Cutis laxa (CL) syndromes are a large and heterogeneous group of rare connective tissue disorders that share loose redundant skin as a hallmark clinical feature, which reflects dermal elastic fiber fragmentation. Both acquired and congenital-Mendelian- forms exist. Acquired forms are progressive and often preceded by inflammatory triggers in the skin, but may show systemic elastolysis. Mendelian forms are often pleiotropic in nature and ...
Loss-of-function variants in EFEMP1 cause a recognizable connective tissue disorder characterized by cutis laxa and multiple herniations Universiteit Gent
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity Universiteit Gent
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa Universiteit Gent
Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation Vrije Universiteit Brussel
Autosomal recessive cutis laxa is a genetically heterogeneous condition. Its molecular basis is largely unknown. Recently, a combined disorder of N- and O-linked glycosylation was described in children with congenital cutis laxa in association with severe central nervous system involvement, brain migration defects, seizures and hearing loss. We report on seven additional patients with similar clinical features in combination with congenital ...