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Whole-exome sequencing revealed a nonsense mutation in STKLD1 causing non-syndromic pre-axial polydactyly type A

Muhammad Umair1,2,3, Muhammad Bilal2, Raja H Ali2,4

  • 1Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Science, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.

Clinical Genetics
|April 5, 2019
PubMed

Keywords:
STKLD1limb anomalynonsense variantpre-axial polydactylyserine-threonine kinase

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