Mutations in the Human ROBO1 Gene in Pituitary Stalk Interruption Syndrome | Zendy

Anu Bashamboo | Zendy; Joëlle Big-Topalovic | Zendy; N. Amdouni Moussi | Zendy; Ken McElreavey | Zendy; Raja Brauner | Zendy

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Mutations in the Human ROBO1 Gene in Pituitary Stalk Interruption Syndrome

Author(s) -

Anu Bashamboo,

Joëlle Big-Topalovic,

N. Amdouni Moussi,

Ken McElreavey,

Raja Brauner

Publication year - 2017

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2016-1095

Subject(s) - biology , exome sequencing , missense mutation , micropenis , hypopituitarism , genetics , frameshift mutation , sanger sequencing , exon , mutation , gene , endocrinology , hypospadias

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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