Clinical and Biochemical Characteristics of a Male Patient with a Novel Homozygous STAT5b Mutation | Zendy

Sólrún Vidarsdóttir | Zendy; M.J.E. Walenkamp | Zendy; Alberto M. Pereira | Zendy; Marcel Karperien | Zendy; Jaap van Doorn | Zendy; Hermine A. van Duyvenvoorde | Zendy; Stefan J. White | Zendy; Martijn H. Breuning | Zendy; Ferdinand Roelfsema | Zendy; M. Femke Kruithof | Zendy; Jaap van Dissel | Zendy; Riny Janssen | Zendy; Jan M. Wit | Zendy; Johannes A. Romijn | Zendy

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Clinical and Biochemical Characteristics of a Male Patient with a Novel Homozygous STAT5b Mutation

Author(s) -

Sólrún Vidarsdóttir,

M.J.E. Walenkamp,

Alberto M. Pereira,

Marcel Karperien,

Jaap van Doorn,

Hermine A. van Duyvenvoorde,

Stefan J. White,

Martijn H. Breuning,

Ferdinand Roelfsema,

M. Femke Kruithof,

Jaap van Dissel,

Riny Janssen,

Jan M. Wit,

Johannes A. Romijn

Publication year - 2006

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.2006-0368

Subject(s) - context (archaeology) , endocrinology , mutation , medicine , growth hormone receptor , signal transduction , biology , receptor , phenotype , genetics , growth hormone , hormone , gene , paleontology

GH insensitivity can be caused by defects in the GH receptor (GHR) or in the postreceptor signaling pathway. Recently, two female patients with severe growth retardation and pulmonary and immunological problems were described with a defect in STAT5b, a critical intermediary of downstream GHR signaling.

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