Article
Novel AIP mutation in exon 6 causing acromegaly in a German family.
Journal of endocrinological investigation - 1 Aug 2023
Detomas M, Altieri B, Flitsch J, Saeger W, Korbonits M, Deutschbein T
Abstract excerpt
The most frequent genetic alteration of familial isolated growth hormone producing pituitary neuroendocrine tumors is a germline mutation of the aryl hydrocarbon receptor-interacting protein (AIP) gene. Various AIP mutations are already known; however, an AIP mutation in exon 6 (c.811_812del; p.Arg271Glyfs*16) has not been reported yet. Here, we report a German family with two identical twins who were both...
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