1.
Acta Neuropathol
; 144(2): 373-376, 2022 08.
Artículo
en Inglés
| MEDLINE
| ID: mdl-35587280
2.
Hum Hered
; 86(1-4): 28-33, 2021.
Artículo
en Inglés
| MEDLINE
| ID: mdl-34706366
RESUMEN
Multiple familial diseases in a single patient often present with overlapping symptomatology that confers difficulty in delineating a clinical diagnosis. Pedigree analysis has been a long-standing practice in the field of medical genetics to discover familial diseases. In recent years, whole exome sequencing (WES) has proven to be a useful tool for aiding physicians in diagnosing and understanding disease etiology. This report shows that pedigree analysis and WES are co-dependent processes in establishing diagnoses in a family with 4 different genetic disorders: Birt-Hogg-Dubé Syndrome, RRM2B-related mitochondrial disease, CDC73-related primary hyperparathyroidism, and familial prostate cancer.