Palavra-chave: WHOLE EXOME SEQUENCING

DEAFNESS HDR SYNDROME KMT2A GENE CYTOKINE SÍNDROME NEFRÓTICA ORAL CLEFTS CHERUBISM-LIKE DDS 46,XY INFLAMMATORY BOWEL DISEASES PRIMARY IMMUNODEFICIENCY DISEASES MENTAL DEFICIENCY CRANIOFACIAL ANOMALIES GENES ASSOCIADOS RENAL ABNORMALITIES CONGENITAL ABNORMALITIES NEURODEVELOPMENTAL DISORDERS DISGENESIA GONADAL PARCIAL NEXT GENERATION SEQUENCING (NGS) CHILD WES HYPOPARATHYROIDISM GENÉTICA HUMANA E MÉDICA PUBLIC HEALH CLEFT LIP WIEDEMANN-STEINER SYNDROME CLEFT PALATE CONSANGUINITY EXOMA 22Q11.2 DELETION SYNDROME GENETIC TECHNIQUES GENOMIC IMBALANCES TBC1D2B GENE MUTAÇÕES