Kaufman oculocerebrofacial syndrome

Definition

Kaufman oculocerebrofacial syndrome (KOS) is a rare developmental disorder characterised by reduced growth, microcephaly, ocular anomalies, distinctive facial features, intellectual disability, and generalised hypotonia. It has been reported that KOS is caused by UBE3B loss of function.

References:

[1]. Elisabetta Flex, et al. Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome. J Med Genet. 2013 Aug;50(8):493-9. [Content Brief]

[2]. Lina Basel-Vanagaite, et al. Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome. Am J Hum Genet. 2012 Dec 7;91(6):998-1010. [Content Brief]

生物医学辞典

生物医学辞典は、生物学の学術用語と専門データの包括的で専門的なデータベースです。すべての説明は、権威ある書籍や高いＩＦの文献に基づいており、知りたい生物医学用語の正確な説明を得ることができます。

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