Palavra-chave: WHOLE EXOME SEQUENCING

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