Dyskeratosis Congenita, Autosomal Recessive 5 (DKCB5)

Alias:

Dyskeratosis Congenita, Autosomal Dominant 4

Dkcb5

Dyskeratosis Congenita, Autosomal Recessive, 5

Dyskeratosis Congenita, Autosomal Dominant, 4

Autosomal Recessive Dyskeratosis Congenita 5

Autosomal Dominant Dyskeratosis Congenita 4

Dkca4

Dyskeratosis Congenita, Autosomal Recessive, Type 5

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Dyskeratosis Congenita, Autosomal Recessive 5, also known as dyskeratosis congenita, autosomal dominant 4, is related to dyskeratosis congenita, autosomal dominant 1 and dyskeratosis congenita and related telomere biology disorders. An important gene associated with Dyskeratosis Congenita, Autosomal Recessive 5 is RTEL1 (Regulator Of Telomere Elongation Helicase 1). Affiliated tissues include bone marrow and bone, and related phenotypes are global developmental delay and cerebellar hypoplasia

Related ID：

MALACARDS：DYS152

OMIM：615190

MESH：D019871