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Profound intellectual disability caused by homozygous TRAPPC9 pathogenic variant in a man from Malta.
Wilton, Katelynn M; Gunderson, Lauren B; Hasadsri, Linda; Wood, Christopher P; Schimmenti, Lisa A.
Affiliation
  • Wilton KM; Mayo Clinic Alix School of Medicine Medical Scientist Training Program, Mayo Clinic, Rochester, MN, USA.
  • Gunderson LB; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
  • Hasadsri L; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
  • Wood CP; Department of Radiology, Mayo Clinic, Rochester, MN, USA.
  • Schimmenti LA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Mol Genet Genomic Med ; 8(5): e1211, 2020 05.
Article in En | MEDLINE | ID: mdl-32162493
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Intercellular Signaling Peptides and Proteins / Loss of Function Mutation / Intellectual Disability Type of study: Prognostic_studies Limits: Adult / Humans / Male Language: En Journal: Mol Genet Genomic Med Year: 2020 Document type: Article Affiliation country: Country of publication:
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Intercellular Signaling Peptides and Proteins / Loss of Function Mutation / Intellectual Disability Type of study: Prognostic_studies Limits: Adult / Humans / Male Language: En Journal: Mol Genet Genomic Med Year: 2020 Document type: Article Affiliation country: Country of publication: