TY  - GEN
AU  - Shaheen,Ranad
AU  - Anazi,Shams
AU  - Ben-Omran,Tawfeg
AU  - Seidahmed,Mohammed Zain
AU  - Caddle,L Brianna
AU  - Palmer,Kristina
AU  - Ali,Rehab
AU  - Alshidi,Tarfa
AU  - Hagos,Samya
AU  - Goodwin,Leslie
AU  - Hashem,Mais
AU  - Wakil,Salma M
AU  - Abouelhoda,Mohamed
AU  - Colak,Dilek
AU  - Murray,Stephen A
AU  - Alkuraya,Fowzan S
TI  - Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice
SN  - 1537-6605
PY  - 2016///0829
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Adult
KW  - Alleles
KW  - Amino Acid Sequence
KW  - Animals
KW  - Case-Control Studies
KW  - Child
KW  - Child, Preschool
KW  - Codon, Nonsense
KW  - Female
KW  - Gene Expression Profiling
KW  - Gene Expression Regulation
KW  - Humans
KW  - Intracellular Signaling Peptides and Proteins
KW  - Male
KW  - Mice
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Nonsense Mediated mRNA Decay
KW  - Pedigree
KW  - Phosphoproteins
KW  - Phosphorylation
KW  - Polymorphism, Single Nucleotide
KW  - RNA, Messenger
KW  - Saudi Arabia
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.2016.02.010
ER  -