Atypical GH insensitivity syndrome and severe insulin-like growth factor-I deficiency resulting from compound heterozygous mutations of the GH receptor, including a novel frameshift mutation affecting the intracellular domain

Javier Aisenberg, Valerie Auyeung, Helio F. Pedro, Rachel Sugalski, Amy Chartoff, Rachel Rothenberg, Michael A. Derr, Vivian Hwa, Ron G. Rosenfeld

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15 Scopus citations

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Medicine & Life Sciences