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

Spondyloenchondrodysplasia in five new patients: identification of three novel ACP5 variants with variable neurological presentations.

Molecular genetics and genomics : MGG - 1 May 2023

Elhossini Rasha M, Elbendary Hasnaa M, Rafat Karima, Ghorab Raghda M, Abdel-Hamid Mohamed S

Abstract excerpt

Spondyloenchondrodysplasia (SPENCD) is an immune-osseous disorder caused by biallelic variants in ACP5 gene and is less commonly associated with neurological abnormalities such as global developmental delay, spasticity and seizures. Herein, we describe five new patients from four unrelated Egyptian families with complex clinical presentations including predominant neurological presentations masking the skeletal...

Read the complete abstract on PubMed

Topics

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

Share to Autoimmune Diseases
Share to Growth Hormone

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Immunologic Deficiency Syndromes

Share to Mutation

Share to Osteochondrodysplasias

Share to Tartrate-Resistant Acid Phosphatase

Source

Open in PubMed Open full text

Identifiers

PMID: 37010587
DOI: 10.1007/s00438-023-02009-1
PMCID: PMC10133048

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

Spondyloenchondrodysplasia in five new patients: identification of three novel ACP5 variants with variable neurological presentations.PMID 37010587Read ↗

Expanding the Genotypic and Phenotypic Spectrum of SPENCDI: A Novel ACP5 Variant and Literature Review.Semantic proximity Read ↗

Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene.Semantic proximity Read ↗

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.Semantic proximity Read ↗

Janus kinase inhibitor therapy for the treatment of spondyloenchondrodysplasia with immune dysregulation due to novel ACP5 variants: a multicenter study.Semantic proximity Read ↗

Spondyloenchondrodysplasia with immune dysregulation: Report of a novel ACP-5 gene missense mutation and use of sirolimus.Semantic proximity Read ↗

NANS-CDG: Expanding clinical insights with a novel patient with novel variants.Semantic proximity Read ↗

Expanding the phenotype of SETD5-related disorder and presenting a novel association with bone fragility.Semantic proximity Read ↗

Expanding the spectrum of skeletal dysplasia with immunodeficiency: a commentary on identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.Semantic proximity Read ↗

Diagnosis and Treatment in Anhidrotic Ectodermal Dysplasia with ImmunodeficiencySemantic proximity Read ↗

Progress and Current Status in Hajdu-Cheney Syndrome with Focus on Novel Genetic Research.Semantic proximity Read ↗

Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita.Semantic proximity Read ↗

Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia.Semantic proximity Read ↗

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