@article{demeer:hal-03598604, TITLE = {{Unmasking familial CPX by WES and identification of novel clinical signs}}, AUTHOR = {Demeer, B{\'e}n{\'e}dicte and Revencu, Nicole and Helaers, Raphael and Devauchelle, Bernard and Francois, Genevieve and Bayet, Benedicte and Vikkula, Miikka}, URL = {https://u-picardie.hal.science/hal-03598604}, JOURNAL = {{American Journal of Medical Genetics Part A}}, PUBLISHER = {{Wiley}}, VOLUME = {176}, NUMBER = {12}, PAGES = {2661-2667}, YEAR = {2018}, DOI = {10.1002/ajmg.a.40630}, HAL_ID = {hal-03598604}, HAL_VERSION = {v1}, }