Postaxial polydactyly
Definition:
References:
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[1]. Adrian Palencia-Campos, et al. GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome. Hum Mol Genet. 2017 Dec 1;26(23):4556-4571. [Content Brief]
[2]. Dominic Furniss, et al. Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3. Am J Med Genet A. 2007 Dec 15;143A(24):3150-60. [Content Brief]
[3]. Hao Deng, et al. Advances in the molecular genetics of non-syndromic polydactyly. Expert Rev Mol Med. 2015 Oct 30;17:e18. [Content Brief]
[4]. Irfan Ullah, et al. Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly. Hum Genet. 2019 Jun;138(6):593-600. [Content Brief]
[5]. Isabelle Schrauwen, et al. FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice. J Bone Miner Res. 2019 Feb;34(2):375-386. [Content Brief]
[6]. Muhammad Umair, et al. Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb. Eur J Hum Genet. 2017 Aug;25(8):960-965. [Content Brief]
[7]. Prashant Kumar Verma, et al. Review of literature: genes related to postaxial polydactyly. Front Pediatr. 2015 Feb 11;3:8. [Content Brief]
[8]. Umm-e- Kalsoom, et al. Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A. J Med Genet. 2013 Jan;50(1):47-53. [Content Brief]
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