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
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › Table_S2_DBASS5_index
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
Novel SOST gene mutation in a sclerosteosis patient and her parents.
Bhadada SK et al.
Bone, 2013
First missense mutation in the SOST gene causing sclerosteosis by loss of sclerostin function.
Piters E et al.
Human Mutation, 2010
A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the SOST gene.
Balemans W et al.
Bone, 2005
Identification of the disease-causing gene in sclerosteosis--discovery of a novel bone anabolic target?
Balemans W et al.
Journal of Musculoskeletal & Neuronal Interactions, 2004
Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST).
Balemans W et al.
Human Molecular Genetics, 2001
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