Abstract
HK1 deficient Haemolytic Anaemia in association with a Neurological Phenotype & co-existing Meckel-Gruber due to CEP290 in a Romani family.
© 2021 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
MeSH terms
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Alleles
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Amino Acid Substitution
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Anemia, Hemolytic / diagnosis*
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Anemia, Hemolytic / genetics*
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Antigens, Neoplasm / genetics*
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Cell Cycle Proteins / genetics*
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Ciliary Motility Disorders / diagnosis*
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Ciliary Motility Disorders / genetics*
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Cytoskeletal Proteins / genetics*
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Encephalocele / diagnosis*
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Encephalocele / genetics*
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Genetic Association Studies
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Genetic Predisposition to Disease
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Hexokinase / genetics*
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Humans
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Mutation*
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Pedigree
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Phenotype*
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Polycystic Kidney Diseases / diagnosis*
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Polycystic Kidney Diseases / genetics*
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Retinitis Pigmentosa / diagnosis*
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Retinitis Pigmentosa / genetics*
Substances
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Antigens, Neoplasm
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Cell Cycle Proteins
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Cep290 protein, human
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Cytoskeletal Proteins
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HK1 protein, human
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Hexokinase