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New recessive truncating mutation in LTBP3 in a family with oligodontia,short stature,and mitral valve prolapse
Authors:Sarah L Dugan  Renee T Temme  Rebecca A Olson  Anna Mikhailov  Rosalind Law  Huda Mahmood  Abdul Noor  John B Vincent
Institution:1. Department of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota;2. Molecular Neuropsychiatry and Development (MiND) Lab, Centre for Addiction and Mental Health, Campbell Family Mental Health Research Institute, Toronto, Ontario, Canada;3. Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada;4. Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada;5. Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada
Abstract:
Keywords:oligodontia  selective tooth agenesis  anodontia  short stature  cardiac  mitral valve prolapse  hypertrichosis  autosomal recessive
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