PMC Links for OMIM (Select 208150) - PMC - NCBI

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Items: 3

Select item 45382081.

Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence

M Brigita Tan-Sindhunata, Inge B Mathijssen, Margriet Smit, Frank Baas, Johanna I de Vries, J Patrick van der Voorn, Irma Kluijt, Marleen A Hagen, Eveline W Blom, Erik Sistermans, Hanne Meijers-Heijboer, Quinten Waisfisz, Marjan M Weiss, Alexander J Groffen

Eur J Hum Genet. 2015 Sep; 23(9): 1151–1157. Published online 2014 Dec 24. doi: 10.1038/ejhg.2014.273

PMCID:: PMC4538208

Abstract Article PDF–2.6M

Select item 5076872.

Association of arthrogryposis multiplex congenita with maternal antibodies inhibiting fetal acetylcholine receptor function.

S Riemersma, A Vincent, D Beeson, C Newland, S Hawke, B Vernet-der Garabedian, B Eymard, J Newsom-Davis

J Clin Invest. 1996 Nov 15; 98(10): 2358–2363. doi: 10.1172/JCI119048

PMCID:: PMC507687

Summary PDF–178K

Select item 4082643.

Plasma from human mothers of fetuses with severe arthrogryposis multiplex congenita causes deformities in mice

Leslie Jacobson, Agata Polizzi, Gillian Morriss-Kay, Angela Vincent

J Clin Invest. 1999 Apr 1; 103(7): 1031–1038. doi: 10.1172/JCI5943

PMCID:: PMC408264

Abstract Article PDF–524K

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