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Dobyns, William
One or more keywords matched the following items that are connected to Dobyns, William
Item TypeName
Concept Fibrous Dysplasia, Polyostotic
Concept Optic Lobe, Nonmammalian
Concept Optic Nerve
Concept Optic Atrophy
Concept Optic Disk
Concept Septo-Optic Dysplasia
Concept Retinal Dysplasia
Academic Article Cortical dysplasias, genetics, and epileptogenesis.
Academic Article Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.
Academic Article Pontocerebellar hypoplasia type 6: A British case with PEHO-like features.
Academic Article Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors.
Academic Article Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.
Academic Article Mutation of the gene in a family with optic nerve colobomas, renal anomolies and vesicoureteral reflux.
Academic Article Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation.
Academic Article New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyria.
Academic Article The microcephaly-capillary malformation syndrome.
Academic Article Septo-optic dysplasia and amniotic bands: further evidence for a vascular pathogenesis.
Academic Article Loss-of-function mutations in RAB18 cause Warburg micro syndrome.
Academic Article Albright hereditary osteodystrophy and del(2) (q37.3) in four unrelated individuals.
Academic Article Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.
Academic Article PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.
Academic Article Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.
Academic Article Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
Grant Megalencephaly and segmental brain overgrowth in humans
Search Criteria
  • Septo
  • Optic
  • Dysplasia