Palavra-chave: WHOLE EXOME SEQUENCING

DDS 46,XY NEURODEVELOPMENTAL DISORDERS GENETIC TECHNIQUES EXOMA MENTAL DEFICIENCY 22Q11.2 DELETION SYNDROME DISTÚRBIOS DA DIFERENCIAÇÃO GONADAL KMT2A GENE WES CONGENITAL ABNORMALITIES CRANIOFACIAL ANOMALIES PRIMARY IMMUNODEFICIENCY DISEASES RENAL ABNORMALITIES DISTÚRBIOS DA DIFERENCIAÇÃO SEXUAL SÍNDROME NEFRÓTICA DISGENESIA GONADAL PARCIAL INFLAMMATORY BOWEL DISEASES GENE FSHR HIPOGONADISMO GENES ASSOCIADOS HYPOPARATHYROIDISM WIEDEMANN-STEINER SYNDROME MUTAÇÕES HDR SYNDROME CHERUBISM-LIKE CHILD DEAFNESS NEXT GENERATION SEQUENCING (NGS) TBC1D2B GENE GENÉTICA HUMANA E MÉDICA CONSANGUINITY