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Autosomaal recessieve congenitale methemoglobinemie

Traduction de «autosomaal recessieve congenitale methemoglobinemie » (Néerlandais → Anglais) :

autosomaal recessieve congenitale methemoglobinemie

Autosomal recessive congenital methemoglobinemia


syndroom van autosomaal recessieve palmoplantaire keratodermie en congenitale alopecia

A rare genetic skin disorder with characteristics of congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum. To date the syndrome has been reported in two families (se


autosomaal recessieve ernstige congenitale neutropenie door deficiëntie van 'jagunal homolog 1'

Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency




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Date index: 2021-12-23
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