Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome | Zendy

Shana E. McCormack | Zendy; Dong Li | Zendy; Yeon Joo Kim | Zendy; Ji Young Lee | Zendy; SooHyun Kim | Zendy; Robert Rapaport | Zendy; Michael A. Levine | Zendy

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Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome

Author(s) -

Shana E. McCormack,

Dong Li,

Yeon Joo Kim,

Ji Young Lee,

SooHyun Kim,

Robert Rapaport,

Michael A. Levine

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.2017-00332

Subject(s) - missense mutation , pituitary stalk , sanger sequencing , biology , anterior pituitary , genetics , hypopituitarism , candidate gene , pituitary gland , exome sequencing , mutation , posterior pituitary , loss function , phenotype , endocrinology , gene , hormone

Pituitary stalk interruption syndrome (PSIS, ORPHA95496) is a congenital defect of the pituitary gland characterized by the triad of a very thin/interrupted pituitary stalk, an ectopic (or absent) posterior pituitary gland, and hypoplasia or aplasia of the anterior pituitary gland. Complex genetic patterns of inheritance of this disorder are increasingly recognized.

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