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A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism.
Detection of facial hypotonia and diagnosis of facioscapulohumeral dystrophy.
Favorable long-term survival following induction chemotherapy with cisplatin, fluorouracil, and leucovorin and concomitant chemoradiotherapy for locally advanced head and neck cancer.
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Detection of facial hypotonia and diagnosis of facioscapulohumeral dystrophy.
Detection of facial hypotonia and diagnosis of facioscapulohumeral dystrophy. Arch Ophthalmol. 2008 May; 126(5):745-6; author reply 746.
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subject areas
Chromosome Deletion
Chromosomes, Human, Pair 4
Eye Enucleation
Facial Muscles
Fluorescein Angiography
Glaucoma, Neovascular
Humans
Intraocular Pressure
Laser Coagulation
Muscle Hypotonia
Muscular Dystrophy, Facioscapulohumeral
Retinal Diseases
Retinal Vessels
Telangiectasis
authors with profiles
Veeral Sheth