TY  - GEN
AU  - Bruel,A-L
AU  - Thevenon,J
AU  - Huet,F
AU  - Jean-Marcais,N
AU  - Odent,S
AU  - Dubourg,C
AU  - Lehalle,D
AU  - Tran Mau-Them,F
AU  - Philippe,C
AU  - Moutton,S
AU  - Houcinat,N
AU  - Gay,S
AU  - Guibaud,L
AU  - Duffourd,Y
AU  - Rivière,J-B
AU  - Faivre,L
AU  - Thauvin-Robinet,C
TI  - Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly
SN  - 1399-0004
PY  - 2019///1024
KW  - Child
KW  - Codon, Nonsense
KW  - Coloboma
KW  - diagnosis
KW  - Facies
KW  - Genetic Predisposition to Disease
KW  - Hedgehog Proteins
KW  - genetics
KW  - Humans
KW  - Intellectual Disability
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Microcephaly
KW  - Pedigree
KW  - Phenotype
KW  - Exome Sequencing
N1  - Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1111/cge.13211
ER  -