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Hypotrichosis-lymphedema-telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum.
Coulie, Richard; Niyazov, Dmitriy M; Gambello, Michael J; Fastré, Elodie; Brouillard, Pascal; Vikkula, Miikka.
Affiliation
  • Coulie R; Human Molecular Genetics, de Duve Institute, University of Louvain, Brussels, Belgium.
  • Niyazov DM; Section of Medical Genetics, Ochsner Health System and University of Queensland, New Orleans, Louisiana, USA.
  • Gambello MJ; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
  • Fastré E; Human Molecular Genetics, de Duve Institute, University of Louvain, Brussels, Belgium.
  • Brouillard P; Human Molecular Genetics, de Duve Institute, University of Louvain, Brussels, Belgium.
  • Vikkula M; Human Molecular Genetics, de Duve Institute, University of Louvain, Brussels, Belgium.
Am J Med Genet A ; 185(7): 2153-2159, 2021 07.
Article in En | MEDLINE | ID: mdl-33851505
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Telangiectasis / Genetic Predisposition to Disease / Lymphangiogenesis / SOXF Transcription Factors / Hypotrichosis / Lymphedema Type of study: Risk_factors_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2021 Document type: Article Affiliation country: Belgium Country of publication: United States
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Telangiectasis / Genetic Predisposition to Disease / Lymphangiogenesis / SOXF Transcription Factors / Hypotrichosis / Lymphedema Type of study: Risk_factors_studies Limits: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2021 Document type: Article Affiliation country: Belgium Country of publication: United States