A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERC on chromosome 3q26.2.
Comprehensive, easy-to-understand information about this condition
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immunodeficiency-centromeric instability-facial anomalies syndrome
MONDO:0000133
pulmonary fibrosis and/or bone marrow failure, telomere-related
MONDO:0000148
cirrhosis, familial
MONDO:0007329
dyskeratosis congenita, autosomal recessive 1
MONDO:0009136
Revesz syndrome
MONDO:0009990
Coats plus syndrome
MONDO:0012815