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Journal Articles Journal of Clinical Endocrinology and Metabolism Year : 2017

Mutations in the Human ROBO1 Gene in Pituitary Stalk Interruption Syndrome

Abstract

Pituitary stalk interruption syndrome (PSIS) is characterized by a thin or absent pituitary stalk usually in association with an ectopic posterior pituitary and hypoplasia/aplasia of the anterior pituitary. Associated phenotypes include varied ocular anomalies, hypoglycemia, micropenis/cryptorchidism, growth failure, or combined pituitary hormone deficiencies. Although genetic causes have been identified, they explain only around 5% of PSIS cases.

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pasteur-03521845 , version 1 (11-01-2022)

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Anu Bashamboo, Joelle Bignon-Topalovic, Nasser Moussi, Ken Mcelreavey, Raja Brauner. Mutations in the Human ROBO1 Gene in Pituitary Stalk Interruption Syndrome. Journal of Clinical Endocrinology and Metabolism, 2017, 102 (7), pp.2401-2406. ⟨10.1210/jc.2016-1095⟩. ⟨pasteur-03521845⟩

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