A nonsense variant in FGFR1: a rare cause of combined pituitary hormone deficiency

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ERBAŞ İ. M., Paketci A., Acar S., KOTAN L. D., DEMİR K., ABACI A., ...Daha Fazla

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.33, sa.12, ss.1613-1615, 2020 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 33 Sayı: 12
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1515/jpem-2020-0029
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.1613-1615
  • Anahtar Kelimeler: FGFR1, hypopituitarism, pubertal delay, short stature, KALLMANN-SYNDROME, HYPOGONADOTROPIC HYPOGONADISM, MUTATIONS, RECEPTOR, DEFECTS
  • Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Objectives: Variants in fibroblast growth factor receptor-1 (FGFR1) may either cause isolated hypogonadotropic hypogonadism (IHH) or Kallmann syndrome (KS). Although the relationship of genes classically involved in IHH with combined pituitary hormone deficiency (CPHD) is well established, variants in FGFR1 have been presented as a rare cause of this phenotype recently.