@article{michot:hal-01863363,
TITLE = {Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A from acrodysostosis to acroscyphodysplasia},
AUTHOR = {Michot, Caroline and Le Goff, Carine and Blair, Edward and Blanchet, Patricia and Capri, Yline and Gilbert-Dussardier, Brigitte and Goldenberg, Alice and Henderson, Alex and Isidor, Bertrand and Kayserili, Hulya and Kinning, Esther and Le Merrer, Martine and Lyonnet, Stanislas and Odent, Sylvie and Simsek-Kiper, Pelin Ozlem and Quelin, Chlo{\'e} and Savarirayan, Ravi and Simon, Marleen and Splitt, Miranda and M a Verhagen, Judith and Verloes, Alain and Munnich, Arnold and Baujat, Genevi{\`e}ve and Cormier-Daire, Valerie},
URL = {https://univ-rennes.hal.science/hal-01863363},
JOURNAL = {European Journal of Human Genetics},
PUBLISHER = {Nature Publishing Group},
VOLUME = {26},
NUMBER = {11},
PAGES = {1611-1622},
YEAR = {2018},
MONTH = Nov, DOI = {10.1038/s41431-018-0135-1},
HAL_ID = {hal-01863363},
HAL_VERSION = {v1},
}