Associated Papers
Alazami syndrome with a single LARP7 variant and concurrent osteo-oto-hepato-enteric syndrome: A case of complex genetic interplay.
Thouqan A et al.
Radiology Case Reports, 2025
40129845 (PubMed )
Supplement: mmc1.xlsx › Supp_Data
Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families.
Soengas-Gonda E et al.
Neuropediatrics, 2023
Compound Phenotype Due to Recessive Variants in LARP7 and OTOG Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing.
Palumbo P et al.
Genes, 2020
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