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Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius
Authors: Klopocki, Eva; Schulze, Harald; Strauß, Gabriele; Ott, Claus-Eric; Hall, Judith; Trotier, Fabienne; Fleischhauer, Silke; Greenhalgh, Lynn; Newbury-Ecob, Ruth A.; Neumann, Luitgard M.; Habenicht, Rolf; König, Rainer; Seemanova, Eva; Megarbane, André; Ropers, Hans-Hilger; Ullmann, Reinhard; Mundlos, Stefan
Date of Publication (YYYY-MM-DD): 2007-02-01
Title of Journal: American Journal of Human Genetics : AJHG / American Society of Human Genetics
Volume: 80
Issue / Number: 2
Start Page: 232
End Page: 240
Document Type: Article
ID: 334122.0
 
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Escobar Syndrome Is a Prenatal Myasthenia Caused by Disruption of the Acetylcholine Receptor Fetal γ Subunit
Authors: 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
Date of Publication (YYYY-MM-DD): 2006-08
Title of Journal: American Journal of Human Genetics (Chicago, IL)
Volume: 79
Issue / Number: 2
Start Page: 303
End Page: 312
Document Type: Article
ID: 313086.0
 
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