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Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene

✍ Scribed by Tatsumi, Ke-ita; Miyai, Kiyoshi; Notomi, Tsugunori; Kaibe, Kyoko; Amino, Nobuyuki; Mizuno, Yuji; Kohno, Hitoshi


Book ID
109915638
Publisher
Nature Publishing Group
Year
1992
Tongue
English
Weight
291 KB
Volume
1
Category
Article
ISSN
1061-4036

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To ascertain the molecular background of combined pituitary hormone deficiency, screening for mutations in the pituitaryspecific transcription factor (Pit-1/GHF-1) gene (PIT1) was performed on a cohort of 15 children from Russia with combined growth hormone (GH)/prolactin (Prl)/thyroidstimulating ho