TY  - GEN
AU  - Brown,David J
AU  - Kim,Theresa B
AU  - Petty,Elizabeth M
AU  - Downs,Catherine A
AU  - Martin,Donna M
AU  - Strouse,Peter J
AU  - Moroi,Sayoko E
AU  - Milunsky,Jeff M
AU  - Lesperance,Marci M
TI  - Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin
SN  - 0002-9297
PY  - 2002///1011
KW  - Abnormalities, Multiple
KW  - diagnosis
KW  - Amino Acid Sequence
KW  - Ankylosis
KW  - Base Sequence
KW  - Bone Morphogenetic Proteins
KW  - genetics
KW  - Carrier Proteins
KW  - Codon, Nonsense
KW  - Female
KW  - Frameshift Mutation
KW  - Genes, Dominant
KW  - Heterozygote
KW  - Humans
KW  - Hyperopia
KW  - Male
KW  - Michigan
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Pedigree
KW  - Phenotype
KW  - Radiography
KW  - Stapes
KW  - abnormalities
KW  - Syndrome
KW  - Thumb
KW  - Toes
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1086/342067
ER  -