Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly.
Bruel, A-L
Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly. [electronic resource] - Clinical genetics 07 2018 - 182-184 p. digital
Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't
1399-0004
10.1111/cge.13211 doi
Child
Codon, Nonsense
Coloboma--diagnosis
Facies
Genetic Predisposition to Disease
Hedgehog Proteins--genetics
Humans
Intellectual Disability--diagnosis
Magnetic Resonance Imaging
Male
Microcephaly--diagnosis
Pedigree
Phenotype
Exome Sequencing
Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly. [electronic resource] - Clinical genetics 07 2018 - 182-184 p. digital
Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't
1399-0004
10.1111/cge.13211 doi
Child
Codon, Nonsense
Coloboma--diagnosis
Facies
Genetic Predisposition to Disease
Hedgehog Proteins--genetics
Humans
Intellectual Disability--diagnosis
Magnetic Resonance Imaging
Male
Microcephaly--diagnosis
Pedigree
Phenotype
Exome Sequencing