Intronic variant in POU1F1 associated with canine pituitary dwarfism
نویسندگان
چکیده
منابع مشابه
Shedding light on canine pituitary dwarfism
Pituitary dwarfism, associated with growth hormone (GH) deficiency, is an autosomal, recessively inherited disorder in shepherd dogs. As outlined in reference [49], pituitary dwarfism is a serious illness and clinical signs are not limited to physical appearance. Instead, the dwarfs suffer from a whole range of clinical manifestations. Without proper treatment, the long-term prognosis is poor. ...
متن کاملHypothalamic-pituitary functions in patients with idiopathic pituitary dwarfism.
To investigate hypothalamic-pituitary functions and the primary site of the lesion in idiopathic pituitary dwarfism, various pituitary function tests, especially the pituitary hormone responses to the hypophysiotropic hormones were studied in 23 patients with idiopathic pituitary dwarfism. A few cases showed slight responses of GH to GH stimulation tests. Gonadotropin deficiencies were most fre...
متن کاملHereditary pituitary dwarfism with spontaneous puberty.
It is now well established that pituitary dwarfism may be recessively inherited (Hanhart, 1925; Nowakowski and Lenz, 1961; Trygstad and Seip, 1964; Rimoin, Merimee, and McKusick, 1966). The condition has repeatedly been observed in sibs (Biben and Gordan, 1955; Scharer and Prader, 1960; Nowakowski and Lenz, 1961; Trygstad and Seip, 1964; Bierich, 1964; Brasel, Wright, Wilkins, and Blizzard, 196...
متن کاملMR imaging of pituitary dwarfism.
The purpose of this study was to determine whether the MR findings of idiopathic pituitary dwarfism correlated with a clinical history of perinatal abnormalities and abnormal levels of pituitary hormones. MR examinations of 18 patients with pituitary dwarfism were performed; these patients were divided into two groups: those with ectopic posterior lobes (group 1) and those with normal posterior...
متن کاملPituitary Dwarfism in Saarloos and Czechoslovakian Wolfdogs is Associated with a Mutation in LHX3
BACKGROUND Pituitary dwarfism in German Shepherd Dogs is associated with autosomal recessive inheritance and a mutation in LHX3, resulting in combined pituitary hormone deficiency. Congenital dwarfism also is encountered in breeds related to German Shepherd Dogs, such as Saarloos and Czechoslovakian wolfdogs. OBJECTIVES To investigate whether Saarloos and Czechoslovakian wolfdog dwarfs have t...
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ژورنال
عنوان ژورنال: Human Genetics
سال: 2021
ISSN: 0340-6717,1432-1203
DOI: 10.1007/s00439-021-02259-2