Xq26.3 Duplication in a Boy With Motor Delay and Low Muscle Tone Refines the X-Linked Acrogigantism Genetic Locus

Por Trivellin, Giampaolo, Sharwood, Erin, Hijazi, Hadia, Carvalho, Claudia M B, Yuan, Bo, Tatton-Brown, Katrina, Coman, David, Lupski, James R, Cotterill, Andrew M, Lodish, Maya B, Stratakis, Constantine A
Publicado no J Endocr Soc (2018)

Progression of Mineral Ion Abnormalities in Patients With Jansen Metaphyseal Chondrodysplasia

Por Saito, Hiroshi, Noda, Hiroshi, Gatault, Philippe, Bockenhauer, Detlef, Loke, Kah Yin, Hiort, Olaf, Silve, Caroline, Sharwood, Erin, Martin, Regina Matsunaga, Dillon, Michael J, Gillis, David, Harris, Mark, Rao, Sudhaker D, Pauli, Richard M, Gardella, Thomas J, Jüppner, Harald
Publicado no J Clin Endocrinol Metab (2018)