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TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
Whitman, Mary C; Barry, Brenda J; Robson, Caroline D; Facio, Flavia M; Van Ryzin, Carol; Chan, Wai-Man; Lehky, Tanya J; Thurm, Audrey; Zalewski, Christopher; King, Kelly A; Brewer, Carmen; Almpani, Konstantinia; Lee, Janice S; Delaney, Angela; FitzGibbon, Edmond J; Lee, Paul R; Toro, Camilo; Paul, Scott M; Abdul-Rahman, Omar A; Webb, Bryn D; Jabs, Ethylin Wang; Moller, Hans Ulrik; Larsen, Dorte Ancher; Antony, Jayne H; Troedson, Christopher; Ma, Alan; Ragnhild, Glad; Wirgenes, Katrine V; Tham, Emma; Kvarnung, Malin; Maarup, Timothy James; MacKinnon, Sarah; Hunter, David G; Collins, Francis S; Manoli, Irini; Engle, Elizabeth C.
  • Whitman MC; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, 02115, USA.
  • Barry BJ; Department of Ophthalmology, Harvard Medical School, Boston, MA, 02115, USA.
  • Robson CD; Department of Neurology, Boston Children's Hospital, Boston, MA, 02115, USA.
  • Facio FM; Howard Hughes Medical Institute, Chevy Chase, MD, USA.
  • Van Ryzin C; Department of Radiology, Boston Children's Hospital, Boston, MA, 02115, USA.
  • Chan WM; Department of Radiology, Harvard Medical School, Boston, MA, 02115, USA.
  • Lehky TJ; Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, 20892, USA.
  • Thurm A; Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, 20892, USA.
  • Zalewski C; Department of Neurology, Boston Children's Hospital, Boston, MA, 02115, USA.
  • King KA; Howard Hughes Medical Institute, Chevy Chase, MD, USA.
  • Brewer C; EMG Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, 20892-1404, USA.
  • Almpani K; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, NIH, Bethesda, MD, 20892, USA.
  • Lee JS; Audiology Unit, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD, 20892, USA.
  • Delaney A; Audiology Unit, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD, 20892, USA.
  • FitzGibbon EJ; Audiology Unit, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD, 20892, USA.
  • Lee PR; National Institute of Dental and Craniofacial Research, NIH, Bethesda, MD, 20892, USA.
  • Toro C; National Institute of Dental and Craniofacial Research, NIH, Bethesda, MD, 20892, USA.
  • Paul SM; Pediatric Endocrinology and Metabolism, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, Bethesda, MD, 20892, USA.
  • Abdul-Rahman OA; St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.
  • Webb BD; Laboratory of Sensorimotor Research, National Eye Institute, NIH, Bethesda, MD, 20892, USA.
  • Jabs EW; Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, 20892, USA.
  • Moller HU; Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD, 20892, USA.
  • Larsen DA; Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD, 20892, USA.
  • Antony JH; Rehabilitation Medicine Department, NIH Clinical Center, Bethesda, MD, 20892, USA.
  • Troedson C; Departments of Biomedical Engineering and Physical Medicine and Rehabilitation, JHU School of Medicine, Baltimore, MD, 21205, USA.
  • Ma A; Division of Medical Genetics, University of Mississippi Medical Center, Jackson, MS, 39216, USA.
  • Ragnhild G; Munroe-Meyer Institute, Omaha, NE, 68106, USA.
  • Wirgenes KV; Nebraska Medical Center, Omaha, NE, 68198-5450, USA.
  • Tham E; Division of Genetics and Metabolism, Department of Pediatrics, University of Wisconsin - Madison, Madison, WI, USA.
  • Kvarnung M; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.
  • Maarup TJ; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.
  • MacKinnon S; Department of Cell, Developmental, and Regenerative Biology, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.
  • Hunter DG; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.
  • Collins FS; Aarhus University (Emeritus), Aarhus, Denmark.
  • Manoli I; Aarhus University (Emeritus), Aarhus, Denmark.
  • Engle EC; Children's Hospital Westmead, Westmead, NSW, Australia.
Hum Genet ; 140(12): 1709-1731, 2021 Dec.
Article en En | MEDLINE | ID: mdl-34652576
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Tubulina (Proteína) / Fibrosis / Oftalmoplejía / Enfermedades del Sistema Nervioso Periférico / Parálisis Facial / Mutación Tipo de estudio: Diagnostic_studies / Etiology_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Año: 2021 Tipo del documento: Article
Texto completo
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XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Tubulina (Proteína) / Fibrosis / Oftalmoplejía / Enfermedades del Sistema Nervioso Periférico / Parálisis Facial / Mutación Tipo de estudio: Diagnostic_studies / Etiology_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Año: 2021 Tipo del documento: Article