An Orthodenticle Homeobox 2 (OTX2) Mutation in a Patient With Combined Pituitary Hormone Deficiency, Pituitary Malformation, and Retinitis Pigmentosa

Heterozygous mutations of orthodenticle homeobox 2 (OTX2)can result in ocular malformations, pituitary abnormalities, or hypopituitarism spanning from isolated growth hormone (GH) deficiency to combined pituitary hormone deficiency. We present a patient exhibiting growth and pubertal disturbances, d...

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Veröffentlicht in:	Cureus 2023, Vol.15 (12), p.e50819-e50819
Hauptverfasser:	Araújo, Cátia, Baptista, Carla, Paiva, Isabel
Format:	Report
Sprache:	eng
Online-Zugang:	Volltext
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