TY  - GEN
AU  - Bayram,Yavuz
AU  - Pehlivan,Davut
AU  - Karaca,Ender
AU  - Gambin,Tomasz
AU  - Jhangiani,Shalini N
AU  - Erdin,Serkan
AU  - Gonzaga-Jauregui,Claudia
AU  - Wiszniewski,Wojciech
AU  - Muzny,Donna
AU  - Elcioglu,Nursel H
AU  - Yildirim,M Selman
AU  - Bozkurt,Banu
AU  - Zamani,Ayse Gul
AU  - Boerwinkle,Eric
AU  - Gibbs,Richard A
AU  - Lupski,James R
TI  - Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome
SN  - 1552-4833
PY  - 2015///0420
KW  - Adolescent
KW  - Adult
KW  - Alopecia
KW  - genetics
KW  - Anodontia
KW  - Base Sequence
KW  - Child
KW  - Chromosome Segregation
KW  - DNA Mutational Analysis
KW  - Exome
KW  - Facies
KW  - Family
KW  - Female
KW  - Growth Disorders
KW  - Humans
KW  - Male
KW  - Microfilament Proteins
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Neoplasm Proteins
KW  - chemistry
KW  - Optic Atrophies, Hereditary
KW  - Pedigree
KW  - Protein Structure, Tertiary
KW  - Receptors, Cell Surface
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural
UR  - https://doi.org/10.1002/ajmg.a.36678
ER  -