TY  - GEN
AU  - Shimasaki,N
AU  - Watanabe,K
AU  - Hara,M
AU  - Kosaki,K
TI  - EYA1 mutation in a newborn female presenting with cardiofacial syndrome
SN  - 0172-0643
PY  - 2005///0908
KW  - Branchio-Oto-Renal Syndrome
KW  - genetics
KW  - DNA Mutational Analysis
KW  - Diagnosis, Differential
KW  - Facial Asymmetry
KW  - congenital
KW  - Female
KW  - Heart Defects, Congenital
KW  - Humans
KW  - Infant, Newborn
KW  - Intracellular Signaling Peptides and Proteins
KW  - Nuclear Proteins
KW  - Phenotype
KW  - Point Mutation
KW  - Protein Tyrosine Phosphatases
KW  - Sequence Deletion
KW  - Trans-Activators
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s00246-003-0271-3
ER  -