Skip to Main content Skip to Navigation
Journal articles

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.
Document type :
Journal articles
Complete list of metadata

https://hal-pasteur.archives-ouvertes.fr/pasteur-03521845
Contributor : Ken McElreavey Connect in order to contact the contributor
Submitted on : Tuesday, January 11, 2022 - 6:41:44 PM
Last modification on : Thursday, April 7, 2022 - 10:10:29 AM

Links full text

Identifiers

Collections

Citation

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, Endocrine Society, 2017, 102 (7), pp.2401-2406. ⟨10.1210/jc.2016-1095⟩. ⟨pasteur-03521845⟩

Share

Metrics

Record views

16