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
Identification of Two Novel ANKRD11 Mutations: Highlighting Incomplete Penetrance in KBG Syndrome.
Amllal N et al.
Annals of Laboratory Medicine, 2024
Genetic and Phenotypic Spectrum of KBG Syndrome: A Report of 13 New Chinese Cases and a Review of the Literature.
Gao F et al.
Journal of Personalized Medicine, 2022
Two loss-of-function ANKRD11 variants in Chinese patients with short stature and a possible molecular pathway.
Zhang T et al.
American Journal of Medical Genetics. Part A, 2021
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