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June 10, 2024Clinical Genetics

A novel homozygous FAM92A gene (CIBAR1) variant further confirms its association with non‐syndromic postaxial polydactyly type A9 (PAPA9)

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Authors

MUMuhammad UmairKing Saud bin Abdulaziz University for Health SciencesZAZaheer AhmedCOMSATS University IslamabadBSBilal ShakerEwha Womans University

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Umair et al. (2024) studied this question.

synapsesocial.com/papers/68e65674b6db6435875e56b6https://doi.org/10.1111/cge.14572
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  1. 1Whole‐exome sequencing revealed a nonsense mutation in STKLD1 causing non‐syndromic pre‐axial polydactyly type A affecting only upper limb2019 · 12 citations
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  3. 3BAR Domains as Sensors of Membrane Curvature: The Amphiphysin BAR Structure2003 · 1,756 citations
  4. 4Polydactyly: How many disorders and how many genes? 2010 update2011 · 100 citations