Article
A de novo GLI3 mutation in a patient with acrocallosal syndrome.
American journal of medical genetics. Part A - 1 Jun 2013
Speksnijder Leonie, Cohen-Overbeek Titia E, Knapen Maarten F C M, Lunshof Simone M, Hoogeboom A Jeannette M, van den Ouwenland Ans M, de Coo Irenaneus F M, Lequin Maarten H, Bolz Hanno J, Bergmann Carsten, Biesecker Leslie G, Willems Patrick J, Wessels Marja W
Abstract excerpt
Acrocallosal syndrome is characterized by postaxial polydactyly, macrocephaly, agenesis of the corpus callosum, and severe developmental delay. In a few patients with this disorder, a mutation in the KIF7 gene has been reported, which was associated with impaired GLI3 processing and dysregulaton of GLI3 transcription factors. A single patient with acrocallosal syndrome and a de novo p.Ala934Pro mutation in GLI3...
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