Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly.
- Resource Type
- Case Study
- Source
Clinical Genetics . Jul2018, Vol. 94 Issue 1, p182-184. 4p. 1 Diagram.- Subject
- *
MICROCEPHALY
*COLOBOMA
*PHENOTYPES
*HUMAN abnormality genetics - Language
- ISSN
- 0009-9163