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Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of SF3B4-related disease.
Cadieux-Dion, Maxime; Hughes, Susan; Engleman, Kendra; Rush, Eric T; Saunders, Carol.
Affiliation
  • Cadieux-Dion M; Department of Pathology and Laboratory Medicine, Children's Mercy Hospitals, Kansas City, Missouri, USA.
  • Hughes S; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.
  • Engleman K; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.
  • Rush ET; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.
  • Saunders C; University of Missouri Kansas City, School of Medicine, Kansas City, Missouri, USA.
Am J Med Genet A ; 185(5): 1515-1518, 2021 05.
Article in En | MEDLINE | ID: mdl-33559401
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spliceosomes / Genetic Predisposition to Disease / RNA Splicing Factors / Mandibulofacial Dysostosis Limits: Humans / Infant / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2021 Document type: Article Affiliation country: United States Country of publication: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spliceosomes / Genetic Predisposition to Disease / RNA Splicing Factors / Mandibulofacial Dysostosis Limits: Humans / Infant / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2021 Document type: Article Affiliation country: United States Country of publication: United States