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Complete and partial XYLT1 deletion in a patient with neonatal short limb skeletal dysplasia.
van Koningsbruggen, Silvana; Knoester, Hennie; Bakx, Roel; Mook, Olaf; Knegt, Lia; Cobben, Jan Maarten.
Affiliation
  • van Koningsbruggen S; Department of Medical Genetics, AMC University Hospital, Amsterdam, The Netherlands.
  • Knoester H; Department of Pediatric Intensive Care Medicine, Emma Childrens Hospital, AMC University Hospital, Amsterdam, The Netherlands.
  • Bakx R; Department of Pediatric Surgery, Pediatric Surgical Center, Amsterdam, The Netherlands.
  • Mook O; Department of Medical Genetics, AMC University Hospital, Amsterdam, The Netherlands.
  • Knegt L; Department of Medical Genetics, AMC University Hospital, Amsterdam, The Netherlands.
  • Cobben JM; Department of Pediatric Genetics, AMC University Hospital, Amsterdam, The Netherlands.
Am J Med Genet A ; 170A(2): 510-514, 2016 Feb.
Article in En | MEDLINE | ID: mdl-26601923
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Pentosyltransferases / Sequence Deletion / Extremities / Musculoskeletal Abnormalities Type of study: Diagnostic_studies Limits: Humans / Male / Newborn Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2016 Document type: Article Affiliation country: Netherlands Country of publication: United States
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Pentosyltransferases / Sequence Deletion / Extremities / Musculoskeletal Abnormalities Type of study: Diagnostic_studies Limits: Humans / Male / Newborn Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2016 Document type: Article Affiliation country: Netherlands Country of publication: United States