Palavra-chave: WHOLE EXOME SEQUENCING

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