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High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency.
Am J Hum Genet. 2021 Aug 5;108(8):1526-1539. doi: 10.1016/j.ajhg.2021.06.013. Epub 2021 Jul 15.
Am J Hum Genet. 2021.
PMID: 34270938
Free PMC article.
Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes.
Bertko E, Klammt J, Dusatkova P, Bahceci M, Gonc N, Ten Have L, Kandemir N, Mansmann G, Obermannova B, Oostdijk W, Pfäffle H, Rockstroh-Lippold D, Schlicke M, Tuzcu AK, Pfäffle R.
Bertko E, et al. Among authors: rockstroh lippold d.
J Hum Genet. 2017 Aug;62(8):755-762. doi: 10.1038/jhg.2017.34. Epub 2017 Mar 30.
J Hum Genet. 2017.
PMID: 28356564
Free PMC article.
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