Palavra-chave: WES

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