Paper Details

Paper Title

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Paper Journal Title

Brain

Paper Citation Count

Paper Publication Year

2020

Bio Mention

C, C-terminally truncated MN1 protein, MN1, MN1 C, MN1 C-terminal, MN1 C-terminal truncation (MCTT) syndrome, MN1 C-terminal truncation syndrome, MN1 haploinsufficiency, Rhombencephalosynapsis, abnormal posterior clinoid processes, acute myeloid leukaemia, brain malformation, dysmorphic facial features, exon 1, exons, expressive language delay, extreme 3' region, facial features, fibroblasts, human, intellectual disability, midface hypoplasia, neurodevelopmental and craniofacial disorder, neurodevelopmental anomalies, perisylvian polymicrogyria, persistent trigeminal artery, rhombencephalosynapsis, terminal exon

Mesh Descriptor

Author Name	Affiliation
Dan Doherty	University of Washington
Dan Doherty	Center for Integrative Brain Research, Seattle Children's Research Institute
Angela E Lin	MassGeneral Hospital for Children
Megan T Cho
Nadja Ehmke	Institute for Medical Genetics and Human Genetics, Charite - Universitatsmedizin Berlin
Denise Horn	Institute for Medical Genetics and Human Genetics, Charite - Universitatsmedizin Berlin
Tim M Strom	Institute of Human Genetics
Tim M Strom	Institute of Human Genetics, Technische Universitat Munchen
William G Wilson	University of Virginia Health System
Kelly Radtke	Clinical Genomics Department
Elaine H Zackai	Children's Hospital of Philadelphia
Elaine H Zackai	Perelman School of Medicine at the University of Pennsylvania
Michael J Bamshad	University of Washington
Michael J Bamshad	University of Washington Center for Mendelian Genomics
Michael J Bamshad	University of Washington
Michael J Bamshad	University of Washington
Michael J Bamshad	University of Washington
Michael J Bamshad	University of Washington Center for Mendelian Genomics
Deborah A Nickerson	University of Washington
Deborah A Nickerson	University of Washington Center for Mendelian Genomics
Deborah A Nickerson	University of Washington
Deborah A Nickerson	University of Washington Center for Mendelian Genomics
ZÃ¶e Powis	Clinical Genomics Department
William B Dobyns	University of Washington
William B Dobyns	Center for Integrative Brain Research, Seattle Children's Research Institute
William B Dobyns	University of Washington

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