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Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.
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Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.
Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome. Am J Hum Genet. 2008 Jun; 82(6):1334-41.
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PubMed
subject areas
Abnormalities, Multiple
Amino Acid Sequence
Base Sequence
Basic Helix-Loop-Helix Transcription Factors
Codon, Nonsense
DNA
DNA Primers
Dysostoses
Female
Founder Effect
Genes, Recessive
Humans
Male
Molecular Sequence Data
Mutation
Mutation, Missense
Polymorphism, Single Nucleotide
Puerto Rico
Ribs
Sequence Homology, Amino Acid
Syndrome
Thoracic Vertebrae
authors with profiles
John Barker Emans II, M.D.