Palavra-chave: WES

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