TY  - GEN
AU  - Cornier,Alberto S
AU  - Staehling-Hampton,Karen
AU  - Delventhal,Kym M
AU  - Saga,Yumiko
AU  - Caubet,Jean-Francois
AU  - Sasaki,Nobuo
AU  - Ellard,Sian
AU  - Young,Elizabeth
AU  - Ramirez,Norman
AU  - Carlo,Simon E
AU  - Torres,Jose
AU  - Emans,John B
AU  - Turnpenny,Peter D
AU  - Pourquié,Olivier
TI  - Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome
SN  - 1537-6605
PY  - 2008///0627
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Basic Helix-Loop-Helix Transcription Factors
KW  - Codon, Nonsense
KW  - DNA
KW  - DNA Primers
KW  - Dysostoses
KW  - Female
KW  - Founder Effect
KW  - Genes, Recessive
KW  - Hispanic or Latino
KW  - Humans
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Mutation, Missense
KW  - Polymorphism, Single Nucleotide
KW  - Puerto Rico
KW  - ethnology
KW  - Ribs
KW  - abnormalities
KW  - Sequence Homology, Amino Acid
KW  - Syndrome
KW  - Thoracic Vertebrae
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2008.04.014
ER  -