Associated Papers
Phenotypic subtypes of Xia-Gibbs syndrome: a latent class analysis.
Jiang N et al.
European Journal of Human Genetics : Ejhg, 2025
Clinical and Molecular Characterization of Xia-Gibbs Syndrome: Expanding the Phenotypic Spectrum in a Brazilian Cohort.
Sennes MGS et al.
Clinical Genetics, 2025
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review.
Romano F et al.
Birth Defects Research, 2022
Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1.
Faergeman SL et al.
European Journal of Medical Genetics, 2021
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome.
Khayat MM et al.
Human Mutation, 2021
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