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

Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.

Journal of human genetics - 1 Aug 2017

Guo Long, Elcioglu Nursel H, Mizumoto Shuji, Wang Zheng, Noyan Bilge, Albayrak Hatice M, Yamada Shuhei, Matsumoto Naomichi, Miyake Noriko, Nishimura Gen, Ikegawa Shiro

Abstract excerpt

Spondylo-epi-metaphyseal dysplasia (SEMD) is a group of inherited skeletal diseases characterized by the anomalies in spine, epiphyses and metaphyses. SEMD is highly heterogeneous and >20 distinct entities have been identified. Here we describe a novel type of SEMD in two unrelated Turkish patients who presented with severe platyspondyly, kyphoscoliosis, pelvic distortion, constriction of the proximal femora and...

Read the complete abstract on PubMed

Topics

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

Share to Gene Frequency
Share to Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to N-Acetylglucosaminyltransferases

Share to Osteochondrodysplasias

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 28331220
DOI: 10.1038/jhg.2017.38
PMCID: PMC5537416

Genes

EXTL3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.PMID 28331220Read ↗

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.Semantic proximity Read ↗

Hereditary Multiple Exostoses—A Review of the Molecular Background, Diagnostics, and Potential Therapeutic StrategiesSemantic proximity Read ↗

EXTL3-Associated Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities: A Lethal Phenotype.Semantic proximity Read ↗

Spondyloepimetaphyseal dysplasia EXTL3-deficient type: Long-term follow-up and review of the literature.Semantic proximity Read ↗

Hereditary Multiple Exostoses: New Insights into Pathogenesis, Clinical Complications, and Potential Treatments.Semantic proximity Read ↗

From wheelchair to walking: first reported case in Saudi Arabia of transformative orthopedic surgery in a patient with spondyloepimetaphyseal dysplasia with joint laxity type 3 due to EXOC6B mutation-a case report.Semantic proximity Read ↗

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.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 ↗

Clinical survey of a pedigree with hereditary multiple exostoses and identification of EXT‑2 gene deletion mutation.Semantic proximity Read ↗

Novel EXT1 mutation identified in a pedigree with hereditary multiple exostoses.Semantic proximity Read ↗

Hereditary Multiple Exostoses: a review of clinical appearance and metabolic patternSemantic proximity Read ↗

Spondyloepiphyseal dysplasia Omani type: CHST3 mutation spectrum and phenotypes in three Indian families.Semantic proximity Read ↗

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