Article
Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.
European journal of human genetics : EJHG - 1 Jul 2011
Hurst Jane A, Jenkins Dagan, Vasudevan Pradeep C, Kirchhoff Maria, Skovby Flemming, Rieubland Claudine, Gallati Sabina, Rittinger Olaf, Kroisel Peter M, Johnson David, Biesecker Leslie G, Wilkie Andrew O M
Abstract excerpt
Greig cephalopolysyndactyly syndrome (GCPS) is a multiple congenital malformation characterised by limb and craniofacial anomalies, caused by heterozygous mutation or deletion of GLI3. We report four boys and a girl who were presented with trigonocephaly due to metopic synostosis, in association with pre- and post-axial polydactyly and cutaneous syndactyly of hands and feet. Two cases had additional sagittal...
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