TY  - GEN
AU  - Claassen,David
AU  - Boals,Michelle
AU  - Bowling,Kevin M
AU  - Cooper,Gregory M
AU  - Cox,Jennifer
AU  - Hershfield,Michael
AU  - Lewis,Sara
AU  - Wlodarski,Marcin
AU  - Weiss,Mitchell J
AU  - Estepp,Jeremie H
TI  - Complexities of genetic diagnosis illustrated by an atypical case of congenital hypoplastic anemia
SN  - 2373-2873
PY  - 2019///0917
KW  - Adenosine Deaminase
KW  - genetics
KW  - Anemia, Diamond-Blackfan
KW  - diagnosis
KW  - Anemia, Hypoplastic, Congenital
KW  - Bone Marrow
KW  - physiopathology
KW  - Child
KW  - Genetic Testing
KW  - methods
KW  - Humans
KW  - Intercellular Signaling Peptides and Proteins
KW  - Male
KW  - Mutation
KW  - Parents
KW  - Ribosomal Proteins
KW  - Exome Sequencing
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1101/mcs.a003384
ER  -