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Items: 3

1.

The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.

Campeau PM, Lu JT, Dawson BC, Fokkema IF, Robertson SP, Gibbs RA, Lee BH.

Hum Mutat. 2012 Nov;33(11):1520-5. doi: 10.1002/humu.22141. Epub 2012 Jul 12. Review.

2.

Genitopatellar syndrome, sensorineural hearing loss, and cleft palate.

Bergmann C, Spranger S, Javaher P, Ptok M.

Oral Maxillofac Surg. 2011 Jun;15(2):103-6. doi: 10.1007/s10006-009-0202-4. Review.

PMID:
20182757
3.

Human syndromes with congenital patellar anomalies and the underlying gene defects.

Bongers EM, van Kampen A, van Bokhoven H, Knoers NV.

Clin Genet. 2005 Oct;68(4):302-19. Review.

PMID:
16143015

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