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Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.
Pettersson, Maria; Bergendal, Birgitta; Norderyd, Johanna; Nilsson, Daniel; Anderlid, Britt-Marie; Nordgren, Ann; Lindstrand, Anna.
Affiliation
  • Pettersson M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Bergendal B; Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Norderyd J; National Oral Disability Centre for Rare Disorders, The Institute for Postgraduate Dental Education, Jönköping, Sweden.
  • Nilsson D; School of Health and Welfare, Jönköping University, Jönköping, Sweden.
  • Anderlid BM; National Oral Disability Centre for Rare Disorders, The Institute for Postgraduate Dental Education, Jönköping, Sweden.
  • Nordgren A; School of Health and Welfare, Jönköping University, Jönköping, Sweden.
  • Lindstrand A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Am J Med Genet A ; 173(5): 1396-1399, 2017 May.
Article in En | MEDLINE | ID: mdl-28319323
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteoporosis / Aortic Diseases / Odontodysplasia / Genetic Heterogeneity / Dental Enamel Hypoplasia / Vascular Calcification / Interferon-Induced Helicase, IFIH1 / Metacarpus / Muscular Diseases Limits: Adult / Female / Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2017 Document type: Article Affiliation country: Sweden Country of publication: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteoporosis / Aortic Diseases / Odontodysplasia / Genetic Heterogeneity / Dental Enamel Hypoplasia / Vascular Calcification / Interferon-Induced Helicase, IFIH1 / Metacarpus / Muscular Diseases Limits: Adult / Female / Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2017 Document type: Article Affiliation country: Sweden Country of publication: United States