Associated Papers
Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search.
He D et al.
Orphanet Journal of Rare Diseases, 2024
39135054 (PubMed )
Supplement: 13023_2024_3301_MOESM3_ESM.xlsx › Sheet1
A de novo frameshift variant of ANKRD11 (c.1366_1367dup) in a Chinese patient with KBG syndrome.
Chen J et al.
Bmc Medical Genomics, 2021
Case Report: Two Newly Diagnosed Patients With KBG Syndrome-Two Different Molecular Changes.
Wojciechowska K et al.
Frontiers in Pediatrics, 2021
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