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
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Barrio-Hernandez I et al.
Nature Genetics, 2023
36823319 (PubMed )
Supplement: EMS163741-supplement-Supplementary_Data_3.xlsx › ClinVar_evidence
A Novel Mutation in a Gene Causes Sclerosteosis in a Family of Mediterranean Origin.
Ekhzaimy AA et al.
Medicina (kaunas, Lithuania), 2022
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
A Comprehensive Overview of Skeletal Phenotypes Associated with Alterations in Wnt/β-catenin Signaling in Humans and Mice.
Maupin KA et al.
Bone Research, 2013
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 known SOST gene mutation causes sclerosteosis in a familial and an isolated case from Brazilian origin.
Kim CA et al.
Genetic Testing, 2008
SOST/sclerostin, an osteocyte-derived negative regulator of bone formation.
van Bezooijen RL et al.
Cytokine & Growth Factor Reviews, 2005
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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