Palavra-chave: WES

KMT2A GENE ORAL CLEFTS VISCERAL MIOPATY WHOLE EXOME SEQUENCING MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS PRUNE BELLY SEQUENCE ACTG2 MOLECULAR CYTOGENETICS RETT SYNDROME MICROPHTHALMIA NEPHROTIC SYNDROME OSTEOPENIA BEHAVIOUR PROBLEMS GENÉTICA HUMANA E MÉDICA PCR SATB2 MICROFTALMIA-ANOFTALMIA-COLOBOMA CLEFT PALATE EXOMA 22Q11.2 DELETION SYNDROME CYTOGENETICS WIEDEMANN-STEINER SYNDROME MYL9