TY  - GEN
AU  - Rath,Matthias
AU  - Spiegler,Stefanie
AU  - Strom,Tim M
AU  - Trenkler,Johannes
AU  - Kroisel,Peter Michael
AU  - Felbor,Ute
TI  - Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing
SN  - 1552-4833
PY  - 2020///0206
KW  - Adolescent
KW  - Adult
KW  - Arterial Occlusive Diseases
KW  - genetics
KW  - Bone and Bones
KW  - abnormalities
KW  - Brachydactyly
KW  - Cell Cycle Proteins
KW  - Child
KW  - Female
KW  - Genetic Predisposition to Disease
KW  - Heart Defects, Congenital
KW  - Humans
KW  - Hypertension
KW  - Male
KW  - Middle Aged
KW  - Pedigree
KW  - Protein Isoforms
KW  - Syndactyly
KW  - Transcription Factors
KW  - Exome Sequencing
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1002/ajmg.a.60700
ER  -