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CAKUT |
Painel por Sequenciamento de Próxima Geração |
ACE, AGT, AGTR1, ANOS1, ATRX, BMP4, CBP, CHD1L, CHD7, DHCR7, DSTYK, EP300, ESCO2, EVC, EVC2, EYA1, FGF20, FRAS1, FREM1, FREM2, GATA3, GLI3, GPC-3, GREB1L, HNF1B, HNF1, HSPG2, ITGA8, JAG1, KAL1, KAL2, KIF14, MKS1, MKS4, MUC1, NIPBL, NRIP1, NS1, PAX2, PBX1, PEX, REN, RET, ROBO2, SALL1, SALL4, SIX1, SIX2, SIX5, SOX17, TBX18, TNXB, TRAP1, UMOD, UPK3A, VANGL1, WNT4, WT1 |
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Microftalmia e Anoftalmia |
Painel por Sequenciamento de Próxima Geração |
SOX2, SHH, RAX, RARB, PXDN, PRSS56, PAX2, OTX2, MFRP, PITX2, MAB21L2, GDF6, FOXE3, ALDH1A3, BCOR, BMP4, HESX1, SALL4, VAX1, GDF3, STRA6, VSX2 |
