A Null Mutation of TNFRSF11A Causes Dysosteosclerosis, Not Osteopetrosis

Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis

(2021) Jing-Yi Xue et al.   JOURNAL OF HUMAN GENETICS

Resolution of sclerotic lesions of dysosteosclerosis due to biallelic SLC29A3 variant in a Turkish girl

(2021) Dilek Uludağ Alkaya et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Insertion Mutation in Tnfrsf11a Causes a Paget's Disease–Like Phenotype in Heterozygous Mice and Osteopetrosis in Homozygous Mice

(2021) Nerea Alonso et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Molecular diagnosis in a cohort of 114 patients with rare skeletal dysplasias

(2021) Karina C. Silveira et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

A novel mutation in TNFRSF11A gene causes pediatric osteopetrosis: case report

(2021) You Xu et al.   BMC Surgery

Genetic disorders associated with the RANKL/OPG/RANK pathway

(2020) Jing-Yi Xue et al.   JOURNAL OF BONE AND MINERAL METABOLISM

The third case of TNFRSF11A-associated dysosteosclerosis with a mutation producing elongating proteins

(2020) Jing-Yi Xue et al.   JOURNAL OF HUMAN GENETICS

Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation

(2019) Long Guo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TNFRSF11A ‐Associated Dysosteosclerosis: A Report of the Second Case and Characterization of the Phenotypic Spectrum

(2019) Jing‐yi Xue et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Dysosteosclerosis is also caused by TNFRSF11A mutation

(2018) Long Guo et al.   JOURNAL OF HUMAN GENETICS

Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1

(2018) Antonia Howaldt 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

Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis

(2012) P. M. Campeau et al.   HUMAN MOLECULAR GENETICS

RANK-dependent autosomal recessive osteopetrosis: Characterization of five new cases with novel mutations

(2011) Alessandra Pangrazio et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Dysosteosclerosis presents as an “Osteoclast-Poor” form of osteopetrosis: Comprehensive investigation of a 3-year-old girl and literature review

(2010) Michael P Whyte et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia due to TNFRSF11A (RANK) Mutations

(2008) Matteo M. Guerrini et al.   AMERICAN JOURNAL OF HUMAN GENETICS