Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Expansile skeletal hyperphosphatasia is caused by a 15-base pair tandem duplication in TNFRSF11A encoding RANK and is allelic to familial expansile osteolysis.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Jan 2002

Whyte Michael P, Hughes Anne E

Abstract excerpt

Expansile skeletal hyperphosphatasia (ESH) is a singular disorder characterized in the year 2000 in a mother and daughter with early-onset deafness, premature loss of teeth, progressive hyperostotic widening of long bones causing painful phalanges in the hands, accelerated bone remodeling, and episodic hypercalcemia likely inherited as a highly penetrant, autosomal dominant trait. Absence of large osteolytic...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alkaline Phosphatase
Share to Bone Diseases, Metabolic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Osteolysis

Share to Osteoprotegerin

Share to Protein Sorting Signals

Share to Receptors, Cytoplasmic and Nuclear

Share to Receptors, Tumor Necrosis Factor

Share to Tandem Repeat Sequences

Source

Identifiers

PMID: 11771666
DOI: 10.1359/jbmr.2002.17.1.26

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Expansile skeletal hyperphosphatasia is caused by a 15-base pair tandem duplication in TNFRSF11A encoding RANK and is allelic to familial expansile osteolysis.PMID 11771666Read ↗

Identification of a novel tandem duplication in exon 1 of the TNFRSF11A gene in two unrelated patients with familial expansile osteolysis.Semantic proximity Read ↗

Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis.Semantic proximity Read ↗

Phenotypic characterization of early onset Paget's disease of bone caused by a 27-bp duplication in the TNFRSF11A gene.Semantic proximity Read ↗

Juvenile Paget's disease with heterozygous duplication within TNFRSF11A encoding RANK.Semantic proximity Read ↗

Intragenic SNP haplotypes associated with 84dup18 mutation in TNFRSF11A in four FEO pedigrees suggest three independent origins for this mutation.Semantic proximity Read ↗

Paget's disease of bone and genetic disorders of RANKL/OPG/RANK/NF-kappaB signaling.Semantic proximity Read ↗

Panostotic expansile bone disease with massive jaw tumor formation and a novel mutation in the signal peptide of RANK.Semantic proximity Read ↗

Familial expansile osteolysis in a large Spanish kindred resulting from an insertion mutation in the <i>TNFRSF11A</i> geneSemantic proximity Read ↗

A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype.Semantic proximity Read ↗

Insertion Mutation in Tnfrsf11a Causes a Paget's Disease-Like Phenotype in Heterozygous Mice and Osteopetrosis in Homozygous Mice.Semantic proximity Read ↗

Genetic variation in the TNFRSF11A gene encoding RANK is associated with susceptibility to Paget's disease of bone.Semantic proximity Read ↗

Clinical and biochemical response of TNFRSF11A-mediated early-onset familial Paget disease to bisphosphonate therapy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.