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Clinical characterization of a PUF60 variant in a patient with Dubowitz-like syndrome.
Alkhunaizi, Ebba; Braverman, Nancy.
Affiliation
  • Alkhunaizi E; Department of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
  • Braverman N; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
Am J Med Genet A ; 179(1): 130-133, 2019 01.
Article in En | MEDLINE | ID: mdl-30569551
Subject(s)
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Repressor Proteins / Abnormalities, Multiple / Eczema / RNA Splicing Factors / Growth Disorders / Intellectual Disability / Microcephaly Limits: Child, preschool / Female / Humans / Infant / Newborn Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2019 Document type: Article Affiliation country: Country of publication:
Fulltext
Add to My VHL
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Repressor Proteins / Abnormalities, Multiple / Eczema / RNA Splicing Factors / Growth Disorders / Intellectual Disability / Microcephaly Limits: Child, preschool / Female / Humans / Infant / Newborn Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2019 Document type: Article Affiliation country: Country of publication: