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The "megalencephaly-capillary malformation" (MCAP) syndrome: the nomenclature of a highly recognizable multiple congenital anomaly syndrome.
Author Correction: m6A RNA modifications are measured at single-base resolution across the mammalian transcriptome.
Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.
Positive atrial inotropic effect of dofetilide after cardioversion of atrial fibrillation or flutter.
Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.
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Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.
Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities. Am J Hum Genet. 2013 Mar 07; 92(3):468-74.
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PubMed
subject areas
Basement Membrane
Brain
Cerebellum
Cerebral Cortex
Encephalocele
Female
Genetic Predisposition to Disease
Homozygote
Humans
Laminin
Male
Muscular Dystrophies
Nervous System Malformations
Neuroglia
Neurons
Sequence Deletion
Walker-Warburg Syndrome
authors with profiles
William B. Dobyns