Palavra-chave: WES

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