Cornelia de Lange syndrome, NGS
Diagnose Cornelia de Lange syndrome genetically; clinical management and prognosis.
Genelist (45): ADNP, AFF4, ANKRD11, ARHGAP31, ARID1A, ARID1B, ASXL1, ASXL3, BRD4, CHD7, CREBBP, CTCF, DLL4, DOCK6, DPF2, EHMT1, EOGT, EP300, ESCO2, ESPL1, HDAC8, KDM1A, KMT2A, MED12, MED13L, NAA50, NIPBL, NOTCH1, PDGFRB, PACS1, PHF6, PHIP, RAD21, RBPJ, SETD5, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SOX11, SRCAP, STAG1, STAG2, TAF1, TAF6, WDR26, ZMYND11
Featured Review
Diagnose Cornelia de Lange syndrome genetically; clinical management and prognosis.
Genelist (45): ADNP, AFF4, ANKRD11, ARHGAP31, ARID1A, ARID1B, ASXL1, ASXL3, BRD4, CHD7, CREBBP, CTCF, DLL4, DOCK6, DPF2, EHMT1, EOGT, EP300, ESCO2, ESPL1, HDAC8, KDM1A, KMT2A, MED12, MED13L, NAA50, NIPBL, NOTCH1, PDGFRB, PACS1, PHF6, PHIP, RAD21, RBPJ, SETD5, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SOX11, SRCAP, STAG1, STAG2, TAF1, TAF6, WDR26, ZMYND11