The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations
Bosch-Boonstra-Schaaf 视神经萎缩综合征的临床表型不断扩大:20 例新病例及可能的基因型-表型相关性
期刊:Genetics in Medicine
影响因子:6.6
doi:10.1038/gim.2016.18
Chun-An Chen, Daniëlle G M Bosch, Megan T Cho, Jill A Rosenfeld, Marwan Shinawi, Richard Alan Lewis, John Mann, Parul Jayakar, Katelyn Payne, Laurence Walsh, Timothy Moss, Allison Schreiber, Cheri Schoonveld, Kristin G Monaghan, Frances Elmslie, Ganka Douglas, F Nienke Boonstra, Francisca Millan, Fr