Also known as exudative retinopathy with bone marrow failure, DKCA5, Dyskeratosis Congenita, Autosomal Dominant 5, Retinopathy-anemia-central nervous system anomalies syndrome, REVESZ SYNDROME, Revesz-DeBuse syndrome
via PubMed
Disceratose congênita que tem base material em uma mutação recessiva - do TINF2 no cromossomo 14q12 - ligada ao cromossomo X.
via Wikidata · CC0
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).