Secuenciación masiva panel de 7 genes: ACTB, ACTG1, DHCR7, FOXL2, KAT6B, MED12, UBE3B

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Ref: LV2996 Categories: , , , , , , , Diseases: Blefarofimosis (B), epicantus inverso y ptosis; B, ptosis, DI síndrome; Say-Barber-Biesecker-Young-Simpson; Genitopatellar; Ohdo; Smith-Lemli-Opitz; Baraitser-Winter síndromes.Genes: ACTB, UBE3B, KAT6B, DHCR7, FOXL2, ACTG1, MED12Delivery term: 42 days