Fetal akinesia deformation sequence
Definition:
References:
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[1]. Anne Michalk, et al. Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. Am J Hum Genet. 2008 Feb;82(2):464-76. [Content Brief]
[2]. Edith Bonnin, et al. Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence. PLoS Genet. 2018 Dec 13;14(12):e1007845. [Content Brief]
[3]. J Vogt, et al. Germline mutation in DOK7 associated with fetal akinesia deformation sequence. J Med Genet. 2009 May;46(5):338-40. [Content Brief]
[4]. Julie Vogt, et al. Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients. Am J Hum Genet. 2008 Jan;82(1):222-7. [Content Brief]
[5]. M Brigita Tan-Sindhunata, et al. Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence. Eur J Hum Genet. 2015 Sep;23(9):1151-7. [Content Brief]
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