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Transmembrane protein variants found to cause a new developmental disorder

Transmembrane protein variants found to cause a new developmental disorder
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Debdeep Dutta , Hugoj Bellen , Proceedings Of The National Academy Sciences , Baylor College Of Medicine , Diseases Network , National Academy , Baylor College , Dan Duncan Neurological Research Institute , Texas Children , Undiagnosed Diseases Network ,

Study reveals molecular mechanism behind new DOT1L-related disorder

A study from the laboratory of Dr. Hugo J. Bellen, a distinguished service professor at Baylor College of Medicine and a principal investigator at the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital, has discovered that gain-of-function variants in the DOT1L gene cause a new disorder. ....

United States , Baylor College Of Medicine , Florence Robin Renaldo , Siddharth Banka , Brian Hayes , Michaelf Wangler , Cheryl Cytrynbaum , Gregory Costain , Kristian Tveten , Kathleen Sisco , Devon Haynes , Lily Ramsey , Marwan Shinawi , Scott Barish , Moira Blyth , Alexandra Afenjar , Carolyn Wilson , Patrick Yap , Xiao Mao , Patriciag Wheeler , Shinya Yamamoto , Boris Keren , Hugoj Bellen , Cyril Mignot , Ashishr Deshwar , Danielj Wegner ,