Home
About
Overview
Sharing Data
ORCID
Help
History (8)
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures.
Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.
Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.
A de novo GRIN1 Variant Associated With Myoclonus and Developmental Delay: From Molecular Mechanism to Rescue Pharmacology.
Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype.
See All 8 Pages
Find People
Find Everything
Login
to edit your profile (add a photo, awards, links to other websites, etc.)
Edit My Profile
My Person List (
0
)
Return to Top
Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype.
Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype. J Med Genet. 2005 Dec; 42(12):913-21.
View in:
PubMed
subject areas
Abnormalities, Multiple
Adolescent
Brain
Child, Preschool
Eye Abnormalities
Female
Humans
Infant
Male
Musculoskeletal Abnormalities
Nervous System Malformations
Phenotype
Skin Abnormalities
Syndrome
authors with profiles
William B. Dobyns