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Loss of XLαs (extra-large αs) imprinting results in early postnatal hypoglycemia and lethality in a mouse model of pseudohypoparathyroidism Ib.
Fernández-Rebollo E, Maeda A, Reyes M, Turan S, Fröhlich LF, Plagge A, Kelsey G, Jüppner H, Bastepe M. Fernández-Rebollo E, et al. Among authors: frohlich lf. Proc Natl Acad Sci U S A. 2012 Apr 24;109(17):6638-43. doi: 10.1073/pnas.1117608109. Epub 2012 Apr 10. Proc Natl Acad Sci U S A. 2012. PMID: 22496590 Free PMC article.
Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.
Bastepe M, Fröhlich LF, Hendy GN, Indridason OS, Josse RG, Koshiyama H, Körkkö J, Nakamoto JM, Rosenbloom AL, Slyper AH, Sugimoto T, Tsatsoulis A, Crawford JD, Jüppner H. Bastepe M, et al. Among authors: frohlich lf. J Clin Invest. 2003 Oct;112(8):1255-63. doi: 10.1172/JCI19159. J Clin Invest. 2003. PMID: 14561710 Free PMC article.
42 results