Home
About
Overview
Sharing Data
ORCID
Help
History (433)
Emotional quality-of-life and outcomes in adolescents with asthma.
High-grade dural arteriovenous fistula causing subarachnoid hemorrhage with CT angiographic detection of a discrete draining venous outpouching consistent with the rupture site.
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures.
Mutations of the thyroid hormone transporter MCT8 cause prenatal brain damage and persistent hypomyelination.
Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.
See All 433 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
Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome.
Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome. Am J Med Genet A. 2005 Feb 15; 133A(1):53-7.
View in:
PubMed
subject areas
Abnormalities, Multiple
Base Sequence
Chromosomes, Human, Pair 9
Consanguinity
DNA
DNA Mutational Analysis
Eye Abnormalities
Female
Genetic Linkage
Humans
Lod Score
Male
Mannosyltransferases
Microsatellite Repeats
Muscular Dystrophies
Mutation
Pedigree
Polymorphism, Single Nucleotide
Syndrome
authors with profiles
William B. Dobyns