Ontology highlight
ABSTRACT:
SUBMITTER: Favaro FP
PROVIDER: S-EPMC3882729 | biostudies-literature | 2014 Jan
REPOSITORIES: biostudies-literature
Favaro Francine P FP Alvizi Lucas L Zechi-Ceide Roseli M RM Bertola Debora D Felix Temis M TM de Souza Josiane J Raskin Salmo S Twigg Stephen R F SR Weiner Andrea M J AM Armas Pablo P Margarit Ezequiel E Calcaterra Nora B NB Andersen Gregers R GR McGowan Simon J SJ Wilkie Andrew O M AO Richieri-Costa Antonio A de Almeida Maria L G ML Passos-Bueno Maria Rita MR
American journal of human genetics 20131219 1
Richieri-Costa-Pereira syndrome is an autosomal-recessive acrofacial dysostosis characterized by mandibular median cleft associated with other craniofacial anomalies and severe limb defects. Learning and language disabilities are also prevalent. We mapped the mutated gene to a 122 kb region at 17q25.3 through identity-by-descent analysis in 17 genealogies. Sequencing strategies identified an expansion of a region with several repeats of 18- or 20-nucleotide motifs in the 5' untranslated region ( ...[more]