@article{avila:hal-01225503,
TITLE = {Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: towards recommendation for molecular testing and management},
AUTHOR = {Avila, Magali and Dyment, David A. and Sagen, J{\o}rn V. and St-Onge, Judith and Moog, Ute and Chung, Brian H. Y. and Mansour, Sahar and Albanese, Assunta and Garcia, Sixto and Ortiz Martin, David and Lopez, Ainhoa Abad and Claudi, Tor and K{\"o}nig, Rainer and White, Susan M. and Sawyer, Sarah L. and Bernstein, Jon A. and Slattery, Leah and Jobling, Rebekah K. and Yoon, Grace and Curry, Cynthia J. and Le Merrer, Martine and Le Luyer, Bernard and H{\'e}ron, Delphine and Mathieu-Dramard, Mich{\`e}le and Bitoun, Pierre and Odent, Sylvie and Amiel, Jeanne and Kuentz, Paul and Thevenon, Julien and Laville, Martine and Reznik, Yves and Fagour, C{\'e}dric and Nunes, Marie-Laure and Delesalle, Doroth{\'e}e and Manouvrier, Sylvie and Lascols, Olivier and Huet, Fr{\'e}d{\'e}ric and Binquet, Christine and Faivre, Laurence and Rivi{\`e}re, Jean-Baptiste and Vigouroux, Corinne and Nj{\o}lstad, P{\aa}l Rasmus and Innes, A. Micheil and Thauvin-Robinet, Christel},
URL = {https://univ-rennes.hal.science/hal-01225503},
JOURNAL = {Clinical Genetics},
PUBLISHER = {Wiley},
VOLUME = {89},
NUMBER = {4},
PAGES = {501--506},
YEAR = {2016},
DOI = {10.1111/cge.12688},
KEYWORDS = {lipoatrophy ; SHORT syndrome ; PIK3R1 gene ; short stature ; Diabetes ; Insulin Resistance ; intrauterine growth restriction},
PDF = {https://univ-rennes.hal.science/hal-01225503/file/Clinical%20reappraisal%20of%20SHORT%20syndrome_accepted.pdf},
HAL_ID = {hal-01225503},
HAL_VERSION = {v1},
}