Palavra-chave: WES

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