Mutations in the Human ROBO1 Gene in Pituitary Stalk Interruption Syndrome

Autor: Nasser Moussi, Anu Bashamboo, Joelle Bignon-Topalovic, Raja Brauner, Ken McElreavey

Publikováno v: Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, 2017, 102 (7), pp.2401-2406. ⟨10.1210/jc.2016-1095⟩

Context 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 varie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::504d084f8e6953831013d027a8183483
https://pubmed.ncbi.nlm.nih.gov/28402530