HK1 haemolytic anaemia in association with a neurological phenotype and co‐existing CEP290 Meckel–Gruber in a Romani family

HK1 deficient Haemolytic Anaemia in association with a Neurological Phenotype & co‐existing Meckel‐Gruber due to CEP290 in a Romani family.

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Bibliographic Details
Published in:Clinical genetics 2022-01, Vol.101 (1), p.142-143
Main Authors: Sasaki, Erina, Phelan, Ethna, O'Regan, Mary, Kassim, Abdul Halim, Miletin, Jan, McMahon, Corrina, O'Sullivan, Maureen J., Baptista, Julia, Lynch, Sally Ann
Format: Article
Language:English
Subjects:
Alleles
Amino Acid Substitution
Anemia
Anemia, Hemolytic - diagnosis
Anemia, Hemolytic - genetics
Antigens, Neoplasm - genetics
Cell Cycle Proteins - genetics
Ciliary Motility Disorders - diagnosis
Ciliary Motility Disorders - genetics
Cytoskeletal Proteins - genetics
Encephalocele - diagnosis
Encephalocele - genetics
Genetic Association Studies
Genetic Predisposition to Disease
Hemolytic anemia
Hexokinase - genetics
Humans
Mutation
Pedigree
Phenotype
Phenotypes
Polycystic Kidney Diseases - diagnosis
Polycystic Kidney Diseases - genetics
Retinitis Pigmentosa - diagnosis
Retinitis Pigmentosa - genetics
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Description
Summary:HK1 deficient Haemolytic Anaemia in association with a Neurological Phenotype & co‐existing Meckel‐Gruber due to CEP290 in a Romani family.
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.14058