Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome. [electronic resource]
- American journal of human genetics Dec 2009
- 873-82 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2009.11.010 doi
Amino Acid Sequence Clubfoot--genetics Craniofacial Abnormalities--genetics Disaccharides--metabolism Epitopes Hand Deformities--genetics Homozygote Humans Molecular Sequence Data Mutation Mutation, Missense Sequence Homology, Amino Acid Sulfotransferases--genetics Syndrome Thumb