Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.

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 wit...

Полное описание

Библиографические подробности
Главные авторы: Hurst, J, Jenkins, D, Vasudevan, P, Kirchhoff, M, Skovby, F, Rieubland, C, Gallati, S, Rittinger, O, Kroisel, P, Johnson, D, Biesecker, L, Wilkie, A
Формат: Journal article
Язык:English
Опубликовано: 2011