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A novel homozygous nonsense NDNF variant in Kallmann syndrome.
Kotan, Leman Damla; Yildiz, Melek; Turan, Ihsan; Celiloglu, Can; Yuksel, Bilgin; Topaloglu, Ali Kemal.
Afiliação
  • Kotan LD; Division of Pediatric Endocrinology, Faculty of Medicine, Cukurova University, Adana, Turkey.
  • Yildiz M; Division of Pediatric Endocrinology, Faculty of Medicine, Istanbul University, Istanbul, Turkey.
  • Turan I; Division of Pediatric Endocrinology, Faculty of Medicine, Cukurova University, Adana, Turkey.
  • Celiloglu C; Division of Pediatric Endocrinology, Faculty of Medicine, Cukurova University, Adana, Turkey.
  • Yuksel B; Division of Pediatric Endocrinology, Faculty of Medicine, Cukurova University, Adana, Turkey.
  • Topaloglu AK; Division of Pediatric Endocrinology, Harvard Medical School, Massachusetts General Hospital for Children, Boston, Massachusetts, USA.
Am J Med Genet A ; 191(3): 831-834, 2023 03.
Article em En | MEDLINE | ID: mdl-36454653

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Kallmann Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Kallmann Idioma: En Ano de publicação: 2023 Tipo de documento: Article