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A homozygous B3GAT3 mutation causes a severe syndrome with multiple fractures, expanding the phenotype of linkeropathy syndromes.
Jones, Kelly L; Schwarze, Ulrike; Adam, Margaret P; Byers, Peter H; Mefford, Heather C.
Affiliation
  • Jones KL; Division of Genetic Medicine, Department of Pediatrics, University of Washington & Seattle Children's Hospital, Seattle, Washington.
  • Schwarze U; Department of Pathology, University of Washington, Seattle, Washington.
  • Adam MP; Division of Genetic Medicine, Department of Pediatrics, University of Washington & Seattle Children's Hospital, Seattle, Washington.
  • Byers PH; Department of Pathology, University of Washington, Seattle, Washington.
  • Mefford HC; Department of Medicine, University of Washington, Seattle, Washington.
Am J Med Genet A ; 167A(11): 2691-6, 2015 Nov.
Article in En | MEDLINE | ID: mdl-26086840
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Glucuronosyltransferase / Fractures, Multiple / Mutation Type of study: Diagnostic_studies / Etiology_studies / Prognostic_studies Limits: Humans / Infant / Male / Newborn Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2015 Document type: Article Country of publication: Estados Unidos
Fulltext
Add to My VHL
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Glucuronosyltransferase / Fractures, Multiple / Mutation Type of study: Diagnostic_studies / Etiology_studies / Prognostic_studies Limits: Humans / Infant / Male / Newborn Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2015 Document type: Article Country of publication: Estados Unidos