/dyskeratosis congenita, autosomal recessive 1

dyskeratosis congenita, autosomal recessive 1

Rare Disease

MONDO:0009136

Also Known As

DKCB1dyskeratosis congenita, autosomal recessive 1dyskeratosis congenita, autosomal recessive type 1DKCBautosomal recessive dyskeratosis congenitaautosomal recessive dyskeratosis congenita 1dyskeratosis congenita autosomal recessive

Definition

A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA3 on chromosome 15q14.

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Associated Genes

NOP10 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:224230 ↗

GARD

GARD:6300 ↗

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