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

Erina SasakiEthna PhelanMary O'ReganAbdul Halim KassimJan MiletinCorrina McMahonMaureen J O'SullivanJulia BaptistaSally Ann Lynch

Published in: Clinical genetics (2021)

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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