Skip to main content
Agenesis of the corpus callosum in California 1983-2003: a population-based study.
Diagnosis of a terminal deletion of 4p with duplication of Xp22.31 in a patient with findings of Opitz G/BBB syndrome and Wolf-Hirschhorn syndrome.
Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.
Cleft lip with or without cleft palate: frequency in different ethnic populations from the UCSF craniofacial clinic.
Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndrome.
Screening and biochemical analysis of GATA4 sequence variations identified in patients with congenital heart disease.
Clinical features and management issues in Mowat-Wilson syndrome.
Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome.
Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization.
Congenital chylothorax in Opitz G/BBB syndrome.