Article
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.
Journal of medical genetics - 1 Feb 2006
Van Maldergem L, Siitonen H A, Jalkh N, Chouery E, De Roy M, Delague V, Muenke M, Jabs E W, Cai J, Wang L L, Plon S E, Fourneau C, Kestilä M, Gillerot Y, Mégarbané A, Verloes A
Abstract excerpt
Baller-Gerold syndrome (BGS) is a rare autosomal recessive condition with radial aplasia/hypoplasia and craniosynostosis (OMIM 218600). Of >20 cases reported so far, a few appear atypical and have been reassigned to other nosologic entities, including Fanconi anaemia, Roberts SC phocomelia, and Pfeiffer syndromes after demonstration of corresponding cytogenetic or molecular abnormalities. Clinical overlap between...
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