TY  - JOUR

T1  - The value of whole exome sequencing for genetic diagnosis in a patient with Bloom syndrome

JO  - Journal of Endocrinological Investigation

UR  - https://doi.org/10.1007/s40618-020-01433-z

PY  - 2020/09/29

AU  - Cottrell E

AU  - Ladha T

AU  - Borysewicz-Sańczyk H

AU  - Sawicka B

AU  - Savage MO

AU  - Bossowski AT

AU  - Storr HL

ED  - 

DO  - DOI: 10.1007/s40618-020-01433-z

PB  - Springer Science and Business Media LLC

VL  - 44

IS  - 6

SP  - 1331

EP  - 1334

Y2  - 2025/02/05

ER  -