Disease: Microcephaly- corpus callosum dysgenesis and cleft lip-palate
- A case report: corpus callosum dysgenesis, microcephaly, infantile spasm, cleft lip-palate, exophthalmos and psychomotor retardation
- Familial holoprosencephaly, heart defects, and polydactyly
- Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism
- Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter
- Prenatal diagnosis of Juberg-Hayward syndrome