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8. Neuromotor synapses in Escobar syndrome. Robinson KG; Viereck MJ; Margiotta MV; Gripp KW; Abdul-Rahman OA; Akins RE Am J Med Genet A; 2013 Dec; 161A(12):3042-8. PubMed ID: 24038971 [TBL] [Abstract][Full Text] [Related]
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11. Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients. Vogt J; Harrison BJ; Spearman H; Cossins J; Vermeer S; ten Cate LN; Morgan NV; Beeson D; Maher ER Am J Hum Genet; 2008 Jan; 82(1):222-7. PubMed ID: 18179903 [TBL] [Abstract][Full Text] [Related]
12. Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. Morgan NV; Brueton LA; Cox P; Greally MT; Tolmie J; Pasha S; Aligianis IA; van Bokhoven H; Marton T; Al-Gazali L; Morton JE; Oley C; Johnson CA; Trembath RC; Brunner HG; Maher ER Am J Hum Genet; 2006 Aug; 79(2):390-5. PubMed ID: 16826531 [TBL] [Abstract][Full Text] [Related]
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15. Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndrome. Kodaganur SG; Tontanahal SJ; Sarda A; Shah MH; Bhat V; Kumar A Clin Dysmorphol; 2013 Apr; 22(2):54-58. PubMed ID: 23448903 [TBL] [Abstract][Full Text] [Related]
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17. Utilization of Whole Exome Sequencing in Lethal Form of Multiple Pterygium Syndrome: Identification of Mutations in Embryonal Subunit of Acetylcholine Receptor. Nazari T; Rashidi-Nezhad A; Ganji M; Rezaei Z; Talebi S; Ghasemi N; Tavakkoly Bazzaz J Int J Mol Cell Med; 2019; 8(4):258-269. PubMed ID: 32587836 [TBL] [Abstract][Full Text] [Related]
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