Article
Craniosynostosis associated with ocular and distal limb defects is very likely caused by mutations in a gene different from FGFR, TWIST, and MSX2.
American journal of medical genetics - 22 Nov 2002
Passos-Bueno Maria Rita, Armelin Lucia Maria, Alonso Luís Garcia, Neustein Isaac, Sertié Andréa L, Abe Kikue, Pavanello Rita de Cássia, Elkis Lívia C, Koiffmann Célia P
Abstract excerpt
Craniosynostosis caused by genetic factors includes a heterogeneous group of over 100 syndromes, most with autosomal dominant inheritance. Mutations in five genes (FGFR1-, -2, -3, TWIST, and MSX2) causing craniosynostosis as the main clinical feature were described. In most of these conditions, there are also limb malformations. We report a two-generation kindred segregating microcornea, optic nerve alterations...
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