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MIRAGE syndrome in a 10-year-old girl with a novel Lys1024Glu missense variant in SAMD9.
Cinleti, Tayfun; Gülen, Ali; Sönmez, Beria; Gürsoy, Semra; Boyacioglu, Özge Kangalli; Asilsoy, Suna; Ulgenalp, Ayfer; Bozkaya, Özlem Giray; Çaglayan, Ahmet Okay.
Affiliation
  • Cinleti T; Department of Pediatrics, Faculty of Medicine, Branch of Pediatric Genetics.
  • Gülen A; Department of Medical Genetics, School of Medicine.
  • Sönmez B; Department of Pediatrics, Faculty of Medicine, Branch of Pediatric Genetics.
  • Gürsoy S; Department of Pediatrics, Faculty of Medicine, Branch of Pediatric Genetics.
  • Boyacioglu ÖK; Department of Pediatrics, Faculty of Medicine, Branch of Pediatric Allergy and Immunology.
  • Asilsoy S; Department of Pediatrics, Faculty of Medicine, Branch of Pediatric Allergy and Immunology.
  • Ulgenalp A; Department of Medical Genetics, School of Medicine.
  • Bozkaya ÖG; Department of Pediatrics, Faculty of Medicine, Branch of Pediatric Genetics.
  • Çaglayan AO; Department of Medical Genetics, School of Medicine.
Clin Dysmorphol ; 32(3): 133-138, 2023 07 01.
Article in En | MEDLINE | ID: mdl-37195360
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Intracellular Signaling Peptides and Proteins Limits: Child / Female / Humans Language: En Journal: Clin Dysmorphol Journal subject: TERATOLOGIA Year: 2023 Document type: Article Country of publication: United kingdom
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Intracellular Signaling Peptides and Proteins Limits: Child / Female / Humans Language: En Journal: Clin Dysmorphol Journal subject: TERATOLOGIA Year: 2023 Document type: Article Country of publication: United kingdom