@misc{bruel:hal-01737178,
TITLE = {Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly},
AUTHOR = {Bruel, A.-l. and Thevenon, J. and Huet, F. and Jean-marcais, N. and Odent, S. and Dubourg, C. and Lehalle, D. and Mau-them, F. Tran and Philippe, C. and Moutton, S. and Houcinat, N. and Gay, S. and Guibaud, L. and Duffourd, Y. and Rivi{\`e}re, J.-b. and Faivre, L. and Thauvin-robinet, C.},
URL = {https://u-bourgogne.hal.science/hal-01737178},
NOTE = {Lettre {\`a} l'{\'e}diteur (''Clinical Genetics'' : 94(1):182-184). },
PUBLISHER = {Wiley},
YEAR = {2018},
MONTH = Jul, DOI = {10.1111/cge.13211},
HAL_ID = {hal-01737178},
HAL_VERSION = {v1},
}