Novel pathogenic variants in SPARC as cause of osteogenesis imperfecta: Two case reports

A Novel Biallelic Splice Site Variant in the SPARC Gene Causing Severe Osteogenesis Imperfecta

(2023) Agnes Selina et al.   INDIAN JOURNAL OF PEDIATRICS

Collagen transport and related pathways in Osteogenesis Imperfecta

(2021) Lauria Claeys et al.   HUMAN GENETICS

Expanding the phenotype of SPARC-related osteogenesis imperfecta: clinical findings in two patients with pathogenic variants in SPARC and literature review

(2021) Anna Durkin et al.   JOURNAL OF MEDICAL GENETICS

Inter‐ and intrafamilial phenotypic variability in individuals with collagen‐related Osteogenesis Imperfecta

(2020) Lidiia Zhytnik et al.   CTS-Clinical and Translational Science

Biallelic variants in four genes underlying recessive osteogenesis imperfecta

(2020) Amir Hayat et al.   European Journal of Medical Genetics

MANAGEMENT OF ENDOCRINE DISEASE: Osteogenesis imperfecta: an update on clinical features and therapies

(2020) Ronit Marom et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Osteogenesis imperfecta

(2016) Antonella Forlino et al.   LANCET

Recessive Osteogenesis Imperfecta Caused by Missense Mutations in SPARC

(2015) Roberto Mendoza-Londono et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment

(2014) F.S. Van Dijk et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Vertebral fracture assessment using a semiquantitative technique

(2010) Harry K. Genant et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Classification of Osteogenesis Imperfecta revisited

(2009) F.S. Van Dijk et al.   European Journal of Medical Genetics