Long-term follow-up of severe autosomal recessive SP7-related bone disorder

SP7: from Bone Development to Skeletal Disease

(2023) Jialiang S. Wang et al.   Current Osteoporosis Reports

A neomorphic variant in SP7 alters sequence specificity and causes a high-turnover bone disorder

(2022) Julian C. Lui et al.   Nature Communications

Dental phenotype in an adolescent with osteogenesis imperfecta type XII

(2022) Joanna Yuet-ling Tung et al.   BMJ Case Reports

Dominant osteogenesis imperfecta with low bone turnover caused by a heterozygous SP7 variant

(2022) Karissa Ludwig et al.   BONE

A recessive form of craniodiaphyseal dysplasia caused by a homozygous missense variant in SP7/Osterix

(2022) Gretl Hendrickx et al.   BONE

Diagnostic utility of next-generation sequence genetic panel testing in children presenting with a clinically significant fracture history

(2021) Jennifer Harrington et al.   Archives of Osteoporosis

Biallelic variants in four genes underlying recessive osteogenesis imperfecta

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

Juvenile Paget's Disease From Heterozygous Mutation of SP7 Encoding Osterix (Specificity Protein 7, Transcription Factor SP7)

(2020) Michael P. Whyte et al.   BONE

Novel variant in Sp7/Osx associated with recessive osteogenesis imperfecta with bone fragility and hearing impairment

(2018) Melissa Fiscaletti et al.   BONE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

SP7 Inhibits Osteoblast Differentiation at a Late Stage in Mice

(2012) Carolina A. Yoshida et al.   PLoS One

Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta

(2010) Pablo Lapunzina et al.   AMERICAN JOURNAL OF HUMAN GENETICS