DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.
White, Janson
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. [electronic resource] - American journal of human genetics Apr 2015 - 612-22 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.2015.02.015 doi
Adaptor Proteins, Signal Transducing--genetics
Amino Acid Sequence
Base Sequence
Craniofacial Abnormalities--genetics
DNA Primers--genetics
Dishevelled Proteins
Dwarfism--genetics
Exome--genetics
Exons--genetics
Frameshift Mutation--genetics
Gene Components
Humans
Limb Deformities, Congenital--genetics
Molecular Sequence Data
Phosphoproteins--genetics
Sequence Analysis, DNA
Urogenital Abnormalities--genetics
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. [electronic resource] - American journal of human genetics Apr 2015 - 612-22 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.2015.02.015 doi
Adaptor Proteins, Signal Transducing--genetics
Amino Acid Sequence
Base Sequence
Craniofacial Abnormalities--genetics
DNA Primers--genetics
Dishevelled Proteins
Dwarfism--genetics
Exome--genetics
Exons--genetics
Frameshift Mutation--genetics
Gene Components
Humans
Limb Deformities, Congenital--genetics
Molecular Sequence Data
Phosphoproteins--genetics
Sequence Analysis, DNA
Urogenital Abnormalities--genetics