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- Title
Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly.
- Authors
Bruel, A.‐l.; 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, J.‐b.; Faivre, L.; Thauvin‐robinet, C.
- Abstract
A case study of a 10-year-old male patient with who was diagnosed with variation in the SHH gene leading to microcephaly, intellectual disability, and familial coloboma. The article discusses the diagnosis of the disease with the application of DNA sequencing with the use of Sanger sequencing, use of magnetic resonance imaging (MRI), and phenotype of the patient.
- Subjects
MICROCEPHALY; COLOBOMA; PHENOTYPES; HUMAN abnormality genetics
- Publication
Clinical Genetics, 2018, Vol 94, Issue 1, p182
- ISSN
0009-9163
- Publication type
Case Study
- DOI
10.1111/cge.13211