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Hormos Salimi Dafsari

Hormos Salimi Dafsari, Susan Byrne, Jean-Pierre Lin, Matthew Pitt, Jan Dh Jongbloed, Frances Flinter, Heinz Jungbluth
Goldberg-Shprintzen megacolon syndrome (GOSHS) (OMIM 609460) is characterized by a combination of learning difficulties, characteristic dysmorphic features and Hirschsprung's disease. Variable clinical features include iris coloboma, congenital heart defects and central nervous system abnormalities, in particular polymicrogyria. GOSHS has been attributed to recessive mutations in KIAA1279, encoding kinesin family member (KIF)-binding protein (KBP) with a crucial role in neuronal microtubule dynamics. Here we report on a 7-year-old girl with GOSHS as a result of a homozygous deletion of exons 5 and 6 of the KIAA1279 gene...
June 2015: American Journal of Medical Genetics. Part A
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