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
40501103 (PubMed )
Supplement: CGE-108-654-s003.xlsx › References
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 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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