Mice Haploinsufficient for Ets1 and Fli1 Display Middle Ear Abnormalities and Model Aspects of Jacobsen Syndrome.

doi:10.1016/j.ajpath.2015.03.026

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Mice Haploinsufficient for Ets1 and Fli1 Display Middle Ear Abnormalities and Model Aspects of Jacobsen Syndrome.

The American journal of pathology - 1 Jul 2015

Carpinelli Marina R, Kruse Elizabeth A, Arhatari Benedicta D, Debrincat Marlyse A, Ogier Jacqueline M, Bories Jean-Christophe, Kile Benjamin T, Burt Rachel A

Abstract excerpt

E26 transformation-specific 1 (ETS1) and friend leukemia integration 1 (FLI1) are members of the ETS family of transcription factors, of which there are 28 in humans. Both genes are hemizygous in Jacobsen syndrome, an 11q contiguous gene deletion disorder involving thrombocytopenia, facial dysmorphism, growth and mental retardation, malformation of the heart and other organs, and hearing impairment associated...

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Mice Haploinsufficient for Ets1 and Fli1 Display Middle Ear Abnormalities and Model Aspects of Jacobsen Syndrome.

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