1.
Hum Genome Var
; 4: 17030, 2017.
Artículo
en Inglés
| MEDLINE
| ID: mdl-28765788
RESUMEN
Bernard-Soulier syndrome (BSS) is a rare bleeding disorder of autosomal recessive inheritance characterized by macrothrombocytopenia. We report the case of a 14-year-old girl diagnosed with BSS who is a fourth-generation Brazilian of Japanese descent and has a compound heterozygote mutation as the responsible gene. The compound heterozygosity would have occurred from the global and long-term racial migration that brought about an accidental encounter of two rare mutant alleles of different origins.