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Primary Ovarian Failure in Addition to Classical Clinical Features of Coats Plus Syndrome in a Female Carrying 2 Truncating Variants of CTC1.
Riquelme, Joel; Takada, Sanami; van Dijk, Tessa; Peña, Fernanda; Boogaard, Merel W; van Duyvenvoorde, Hermine A; Pico-Knijnenburg, Ingrid; Wit, Jan M; van der Burg, Mirjam; Mericq, Veronica; Losekoot, Monique.
Affiliation
  • Riquelme J; Department of Pediatrics, University of Chile, Hospital San Juan de Dios, Santiago, Chile.
  • Takada S; Department of Pediatrics, Clínica Las Condes, Santiago, Chile.
  • van Dijk T; Department of Pediatrics, Laboratory for Pediatric Immunology, Leiden University Medical Center, Leiden, The Netherlands.
  • Peña F; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Boogaard MW; Department of Pediatrics, Hospital San Juan de Dios, Santiago, Chile.
  • van Duyvenvoorde HA; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Pico-Knijnenburg I; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Wit JM; Department of Pediatrics, Laboratory for Pediatric Immunology, Leiden University Medical Center, Leiden, The Netherlands.
  • van der Burg M; Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands.
  • Mericq V; Department of Pediatrics, Laboratory for Pediatric Immunology, Leiden University Medical Center, Leiden, The Netherlands.
  • Losekoot M; Department of Pediatrics, Clínica Las Condes, Santiago, Chile.
Horm Res Paediatr ; 94(11-12): 448-455, 2021.
Article de En | MEDLINE | ID: mdl-34706368
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Calcinose / Kystes du système nerveux central / Leucoencéphalopathies Limites: Female / Humans Langue: En Journal: Horm Res Paediatr Sujet du journal: ENDOCRINOLOGIA / PEDIATRIA Année: 2021 Type de document: Article Pays d'affiliation: Chili Pays de publication: Suisse
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Calcinose / Kystes du système nerveux central / Leucoencéphalopathies Limites: Female / Humans Langue: En Journal: Horm Res Paediatr Sujet du journal: ENDOCRINOLOGIA / PEDIATRIA Année: 2021 Type de document: Article Pays d'affiliation: Chili Pays de publication: Suisse