Molecular mechanism study of novel compound heterozygous EOGT mutations leading to Adams-Oliver syndrome type 4
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Adams-Oliver Syndrome Type 4 (AOS4) is a rare autosomal recessive disorder primarily characterized by aplasia cutis congenita and cranial defects. Pathogenic variants in several genes, including DOCK6, ARHGAP31, EOGT, RBPJ, DLL4, and NOTCH1, have been implicat... ...
