TY  - GEN
AU  - White,Janson
AU  - Mazzeu,Juliana F
AU  - Hoischen,Alexander
AU  - Jhangiani,Shalini N
AU  - Gambin,Tomasz
AU  - Alcino,Michele Calijorne
AU  - Penney,Samantha
AU  - Saraiva,Jorge M
AU  - Hove,Hanne
AU  - Skovby,Flemming
AU  - Kayserili,Hülya
AU  - Estrella,Elicia
AU  - Vulto-van Silfhout,Anneke T
AU  - Steehouwer,Marloes
AU  - Muzny,Donna M
AU  - Sutton,V Reid
AU  - Gibbs,Richard A
AU  - Lupski,James R
AU  - Brunner,Han G
AU  - van Bon,Bregje W M
AU  - Carvalho,Claudia M B
TI  - DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome
SN  - 1537-6605
PY  - 2015///0529
KW  - Adaptor Proteins, Signal Transducing
KW  - genetics
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Craniofacial Abnormalities
KW  - DNA Primers
KW  - Dishevelled Proteins
KW  - Dwarfism
KW  - Exome
KW  - Exons
KW  - Frameshift Mutation
KW  - Gene Components
KW  - Humans
KW  - Limb Deformities, Congenital
KW  - Molecular Sequence Data
KW  - Phosphoproteins
KW  - Sequence Analysis, DNA
KW  - Urogenital Abnormalities
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2015.02.015
ER  -