@article{cospain:hal-03134882,
TITLE = {Skraban-Deardorff syndrome: six new cases of WDR26-related disease and expansion of the clinical phenotype},
AUTHOR = {Cospain, Auriane and Schaefer, Elise and Faoucher, Marie and Dubourg, Christ{\`e}le and Carr{\'e},
Wilfrid and Bizaoui, Varoona and Assoumani, Jessica and van Maldergem, Lionel and Piton, Am{\'e}lie and G{\'e}rard, B{\'e}n{\'e}dicte and Mau-Them, Fr{\'e}d{\'e}ric Tran and Bruel, Ange-Line and Faivre, Laurence and Demurger, Florence and Pasquier, Laurent and Odent, Sylvie and Fradin, M{\'e}lanie and Lavillaureix, Alinoe},
URL = {https://hal.science/hal-03134882},
JOURNAL = {Clinical Genetics},
PUBLISHER = {Wiley},
VOLUME = {99},
NUMBER = {5},
PAGES = {732-739},
YEAR = {2021},
MONTH = Jan, DOI = {10.1111/cge.13933},
KEYWORDS = {speech therapy ; phenotype ; language development disorders ; hypotonia ; intellectual disability ; WDR26 ; Skraban-Deardorff syndrome},
PDF = {https://hal.science/hal-03134882/file/Cospain%20et%20al-Skraban-Deardorff%20syndrome.pdf},
HAL_ID = {hal-03134882},
HAL_VERSION = {v1},
}
Affichage BibTex