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Expanding the phenotypic spectrum associated with OPHN1 variants.
Schwartz, Talia S; Wojcik, Monica H; Pelletier, Renee C; Edward, Heather L; Picker, Jonathan D; Holm, Ingrid A; Towne, Meghan C; Beggs, Alan H; Agrawal, Pankaj B.
Affiliation
  • Schwartz TS; Division of Genetics & Genomics, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA; The Manton Center for Orphan Disease Research, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA.
  • Wojcik MH; Division of Genetics & Genomics, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA; The Manton Center for Orphan Disease Research, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA; Division of
  • Pelletier RC; Division of Genetics & Genomics, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA; The Manton Center for Orphan Disease Research, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA; Center for C
  • Edward HL; Division of Genetics & Genomics, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA; The Manton Center for Orphan Disease Research, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA; Division of
  • Picker JD; Division of Genetics & Genomics, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA.
  • Holm IA; Division of Genetics & Genomics, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA; The Manton Center for Orphan Disease Research, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA.
  • Towne MC; Division of Genetics & Genomics, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA; The Manton Center for Orphan Disease Research, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA; Ambry Geneti
  • Beggs AH; Division of Genetics & Genomics, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA; The Manton Center for Orphan Disease Research, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA.
  • Agrawal PB; Division of Genetics & Genomics, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA; The Manton Center for Orphan Disease Research, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA; Division of
Eur J Med Genet ; 62(2): 137-143, 2019 Feb.
Article in En | MEDLINE | ID: mdl-29960046
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Nuclear Proteins / Developmental Disabilities / Craniofacial Abnormalities / GTPase-Activating Proteins / Cytoskeletal Proteins / Mutation Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Adult / Child / Child, preschool / Humans / Male Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2019 Document type: Article Affiliation country: Estados Unidos Country of publication: Países Bajos
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Nuclear Proteins / Developmental Disabilities / Craniofacial Abnormalities / GTPase-Activating Proteins / Cytoskeletal Proteins / Mutation Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Adult / Child / Child, preschool / Humans / Male Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2019 Document type: Article Affiliation country: Estados Unidos Country of publication: Países Bajos