Multiple pterygium syndrome
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]. E M Thompson, et al. Multiple pterygium syndrome: evolution of the phenotype. J Med Genet. 1987 Dec;24(12):733-49. [Content Brief]
[3]. J C Ramer, et al. Multiple pterygium syndrome. An overview. Am J Dis Child. 1988 Jul;142(7):794-8. [Content Brief]
[4]. James F Mayhew, et al. Escobar syndrome: is this child prone to malignant hyperthermia?. Paediatr Anaesth. 2009 Jan;19(1):69-70. [Content Brief]
[5]. Julie Vogt, et al. CHRNG genotype-phenotype correlations in the multiple pterygium syndromes. J Med Genet. 2012 Jan;49(1):21-6. [Content Brief]
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