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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Autori principali: 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 OM
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2011
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3128494/
https://ncbi.nlm.nih.gov/pubmed/21326280
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.13
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