Neuromotor Synapses in Escobar Syndrome
The Escobar variant of multiple pterygium syndrome (OMIM #265000) is a rare, autosomal recessive disorder associated with mutations in the γ-subunit of the nicotinic acetylcholine receptor (CHRNG). CHRNG is expressed in fetal muscle during motor development and contributes to the formation of neurom...
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| Hoofdauteurs: | , , , , , |
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| Formaat: | Text |
| Taal: | Engels |
| Gepubliceerd in: |
2013
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| Onderwerpen: | |
| Online toegang: | https://pmc.ncbi.nlm.nih.gov/articles/PMC5600816/ https://pubmed.ncbi.nlm.nih.gov/24038971 http://dx.doi.org/10.1002/ajmg.a.36154 |
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