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Paper Details

Expanding the spectrum of CEP55-associated disease to viable phenotypes.
Am J Med Genet A
6
2020
CEP55, CEP55 gene, CEP55 variant, CEP55 variants, Glu24Lys, MARCH syndrome, Meckel-like syndrome, anhydramnios, biallelic, bilateral toe syndactyly, c.70G, c.70G>A, cerebellar hypoplasia, consensus splice site variant, hydranencephaly, lissencephaly, microcephaly, multinucleated neurons, nonsense variants, pachygyria, patients, renal dysplasia, speech delays, splice variant
Author NameAffiliation
Julie M Gastier-FosterThe Institute for Genomic Medicine, Nationwide Children's Hospital
Julie M Gastier-FosterThe Ohio State University College of Medicine
Julie M Gastier-FosterThe Institute for Genomic Medicine, Nationwide Children's Hospital
Julie M Gastier-FosterThe Ohio State University College of Medicine
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