Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly
| Affiliation auteurs | !!!! Error affiliation !!!! |
| Titre | Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly |
| Type de publication | Journal Article |
| Year of Publication | 2018 |
| Auteurs | Bruel A.-L, Thevenon J., Huet F., Jean-Marcais N., Odent S., Dubourg C., Lehalle D., F. Mau-Them T, Philippe C., Moutton S., Houcinat N., Gay S., Guibaud L., Duffourd Y., Riviere J.-B, Faivre L., Thauvin-Robinet C. |
| Journal | CLINICAL GENETICS |
| Volume | 94 |
| Pagination | 182-184 |
| Date Published | JUL |
| Type of Article | Letter |
| ISSN | 0009-9163 |
| DOI | 10.1111/cge.13211 |