TY  - GEN
AU  - Campbell,C
AU  - Cucci,R A
AU  - Prasad,S
AU  - Green,G E
AU  - Edeal,J B
AU  - Galer,C E
AU  - Karniski,L P
AU  - Sheffield,V C
AU  - Smith,R J
TI  - Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations
SN  - 1098-1004
PY  - 2001///0830
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Alleles
KW  - Blotting, Southern
KW  - Carrier Proteins
KW  - Child
KW  - Child, Preschool
KW  - DNA Mutational Analysis
KW  - Deafness
KW  - Exons
KW  - Family
KW  - Genes, Recessive
KW  - Genetic Testing
KW  - Genotype
KW  - Humans
KW  - Infant
KW  - Membrane Transport Proteins
KW  - Mutation
KW  - Mutation, Missense
KW  - Phenotype
KW  - Sulfate Transporters
KW  - Syndrome
KW  - Temporal Bone
KW  - abnormalities
KW  - Vestibular Aqueduct
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1002/humu.1116
ER  -