Diagnostics (Basel, Switzerland)
Adams-Oliver Syndrome Type 3: A Case Report of Concurrent RBPJ, CACNA1A, and Double-Heterozygous MTHFR Variants.
Grațian Cosmin Damian, Valerica Belengeanu, Cristina Popescu, Diana Marian, Ramona Amina Popovici, Carolina Cojocariu
Published: 202610.3390/diagnostics16020274
Abstract
Background and Clinical Significance: Adams-Oliver syndrome type 3 (AOS3) is a rare congenital disorder typically characterised by terminal transverse limb defects and variable involvement of other organ systems. Although pathogenic variants in RBPJ…
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