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Start Over Author "Houcinat N" Topic microcephaly
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1. Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly.

Author

Bruel AL, Thevenon J, Huet F, Jean-Marcais N, Odent S, Dubourg C, Lehalle D, Tran Mau-Them F, Philippe C, Moutton S, Houcinat N, Gay S, Guibaud L, Duffourd Y, Rivière JB, Faivre L, and Thauvin-Robinet C

Subjects
Child, Coloboma diagnosis, Facies, Genetic Predisposition to Disease, Humans, Intellectual Disability diagnosis, Magnetic Resonance Imaging, Male, Microcephaly diagnosis, Pedigree, Exome Sequencing, Codon, Nonsense, Coloboma genetics, Hedgehog Proteins genetics, Intellectual Disability genetics, Microcephaly genetics, Phenotype
Published
2018
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