Associated Papers
Early Diagnosis and Follow-Up of a Novel Homozygous Mutation in SOST Gene in a Child with Recurrent Facial Palsy: A Case Report and Review of the Literature.
Acquaviva F et al.
International Journal of Molecular Sciences, 2025
40943101 (PubMed )
Supplement: ijms-26-08175-s001.zip › Supplementary_Table_S2_SOST_Mutation_ClinVar.xlsx › Foglio1
A Novel Mutation in a Gene Causes Sclerosteosis in a Family of Mediterranean Origin.
Ekhzaimy AA et al.
Medicina (kaunas, Lithuania), 2022
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Sclerosteosis: Report of type 1 or 2 in three Indian Tamil families and literature review.
Whyte MP et al.
Bone, 2018
Sclerosteosis caused by a novel nonsense mutation of SOST in a consanguineous family.
He WT et al.
Clinical Genetics, 2016
Novel SOST gene mutation in a sclerosteosis patient from Morocco: a case report.
Belkhribchia MR et al.
European Journal of Medical Genetics, 2014
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