Article
HK1 haemolytic anaemia in association with a neurological phenotype and co-existing CEP290 Meckel-Gruber in a Romani family.
Clinical genetics - 1 Jan 2022
Sasaki Erina, Phelan Ethna, O'Regan Mary, Kassim Abdul Halim, Miletin Jan, McMahon Corrina, O'Sullivan Maureen J, Baptista Julia, Lynch Sally Ann
Abstract excerpt
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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