Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene.
作者： Ke-ita Tatsumi , Kiyoshi Miyai , Tsugunori Notomi , Kyoko Kaibe , Nobuyuki Amino
DOI: 10.1038/NG0492-56
关键词: Nonsense mutation 、 Hormone 、 Growth hormone 、 Internal medicine 、 Prolactin 、 Mutation 、 Endocrinology 、 Biology 、 Cretinism 、 Gene 、 Pituitary hormones
摘要: Cretinism is marked by irreversible mental and growth retardation. We describe here an entirely new case of cretinism showing combined pituitary hormone deficiencies of thyrotropin, …
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