The phenotypic spectrum associated with OTX2 mutations in humans.
Louise C GregoryPeter GergicsMarilena NakagumaHironori BandoGiuseppa PattiMark J McCabeFrederic CastinettiQianyi MaAyse Bilge OzelJun Z LiMichele Moreira PoinaAlexander Augusto de Lima JorgeAnna F Figueredo BenedettiAntonio M LerarioIvo J P ArnholdBerenice Bilharinho de MendoncaMohamad MaghnieSally Ann CamperLuciani R S CarvalhoMehul T DattaniPublished in: European journal of endocrinology (2021)
OTX2 mutations are rarely associated with hypopituitarism in isolation without eye abnormalities, and may be variably penetrant, even within the same pedigree. Our data suggest that the endocrine phenotypes in patients with OTX2 mutations are of hypothalamic origin.
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