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
Positive and Negative Regulators of Sclerostin Expression.
Iwamoto R et al.
International Journal of Molecular Sciences, 2022
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
Serum Dickkopf 1 levels in sclerostin deficiency.
van Lierop AH et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
Patients with sclerosteosis and disease carriers: human models of the effect of sclerostin on bone turnover.
van Lierop AH et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2011
Sclerostin is an osteocyte-expressed negative regulator of bone formation, but not a classical BMP antagonist.
van Bezooijen RL et al.
The Journal of Experimental Medicine, 2004
Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein.
Brunkow ME et al.
American Journal of Human Genetics, 2001
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