TY  - GEN
AU  - Kalay,Ersan
AU  - Sezgin,Orhan
AU  - Chellappa,Vasant
AU  - Mutlu,Mehmet
AU  - Morsy,Heba
AU  - Kayserili,Hulya
AU  - Kreiger,Elmar
AU  - Cansu,Aysegul
AU  - Toraman,Bayram
AU  - Abdalla,Ebtesam Mohammed
AU  - Aslan,Yakup
AU  - Pillai,Shiv
AU  - Akarsu,Nurten A
TI  - Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome
SN  - 1537-6605
PY  - 2012///0312
KW  - Adolescent
KW  - Animals
KW  - Base Sequence
KW  - Chromosomes, Human, Pair 21
KW  - genetics
KW  - Cleft Lip
KW  - Cleft Palate
KW  - DNA Mutational Analysis
KW  - Female
KW  - Genes, Recessive
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Male
KW  - Mice
KW  - Molecular Sequence Data
KW  - Mutation
KW  - NF-kappa B
KW  - metabolism
KW  - Polymorphism, Single Nucleotide
KW  - Protein Serine-Threonine Kinases
KW  - Pterygium
KW  - congenital
KW  - Skin Abnormalities
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2011.11.014
ER  -