Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ Subunit

Escobar syndrome is a form of arthrogryposis multiplex congenita and features joint contractures, pterygia, and respiratory distress. Similar findings occur in newborns exposed to nicotinergic acetylcholine receptor (AChR) antibodies from myasthenic mothers. We performed linkage studies in families...

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Xehetasun bibliografikoak
Egile Nagusiak: Hoffmann, Katrin, Müller, Juliane S., Stricker, Sigmar, Megarbane, Andre, Rajab, Anna, Lindner, Tom H., Cohen, Monika, Chouery, Eliane, Adaimy, Lynn, Ghanem, Ismat, Delague, Valerie, Boltshauser, Eugen, Talim, Beril, Horvath, Rita, Robinson, Peter N., Lochmüller, Hanns, Hübner, Christoph, Mundlos, Stefan
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: The American Society of Human Genetics 2006
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1559482/
https://ncbi.nlm.nih.gov/pubmed/16826520
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