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

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...

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ग्रंथसूची विवरण
मुख्य लेखकों: Hurst, J, Jenkins, D, Vasudevan, P, Kirchhoff, M, Skovby, F, Rieubland, C, Gallati, S, Rittinger, O, Kroisel, P, Johnson, D, Biesecker, L, Wilkie, A
स्वरूप: Journal article
भाषा:English
प्रकाशित: 2011

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