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Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.
LIS1 missense mutations cause milder lissencephaly phenotypes including a child with normal IQ.
Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome.
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Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome.
Structural malformations of the brain, eye, and pituitary gland in PHACE syndrome. Am J Med Genet A. 2018 01; 176(1):48-55.
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PubMed
subject areas
Abnormalities, Multiple
Aortic Coarctation
Brain
Eye Abnormalities
Female
Humans
Infant
Infant, Newborn
Magnetic Resonance Imaging
Male
Neurocutaneous Syndromes
Phenotype
Pituitary Gland
authors with profiles
William B. Dobyns