Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome. [electronic resource]
Producer: 20080627Description: 1334-41 p. digitalISSN:- 1537-6605
- Abnormalities, Multiple -- genetics
- Amino Acid Sequence
- Base Sequence
- Basic Helix-Loop-Helix Transcription Factors -- genetics
- Codon, Nonsense
- DNA -- genetics
- DNA Primers -- genetics
- Dysostoses -- genetics
- Female
- Founder Effect
- Genes, Recessive
- Hispanic or Latino -- genetics
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Mutation, Missense
- Polymorphism, Single Nucleotide
- Puerto Rico -- ethnology
- Ribs -- abnormalities
- Sequence Homology, Amino Acid
- Syndrome
- Thoracic Vertebrae -- abnormalities
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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