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

Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency.

BMC pediatrics - 30 Jun 2021

Lorenz Delia, Kress Wolfram, Zaum Ann-Kathrin, Speer Christian P, Hebestreit Helge

Abstract excerpt

BACKGROUND: The spondylodysplastic Ehlers-Danlos subtype (OMIM #130070) is a rare connective tissue disorder characterized by a combination of connective tissue symptoms, skeletal features and short stature. It is caused by variants in genes encoding for enzymes involved in the proteoglycan biosynthesis or for a zinc transporter. PRESENTATION OF CASES: We report two brothers with a similar phenotype of short...

Read the complete abstract on PubMed

Topics

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

Share to Dwarfism
Share to Ehlers-Danlos Syndrome
Share to Joint Instability

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Phenotype

Share to Siblings

Source

Open in PubMed Open full text

Identifiers

PMID: 34193099
DOI: 10.1186/s12887-021-02767-0
PMCID: PMC8243911

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency.PMID 34193099Read ↗

Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome.Semantic proximity Read ↗

Redefining the progeroid form of Ehlers-Danlos syndrome: report of the fourth patient with B4GALT7 deficiency and review of the literature.Semantic proximity Read ↗

Further defining the phenotypic spectrum of B4GALT7 mutations.Semantic proximity Read ↗

A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type.Semantic proximity Read ↗

Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome.Semantic proximity Read ↗

Ehlers Danlos Syndrome with Glycosaminoglycan Abnormalities.Semantic proximity Read ↗

MMP13-related Metaphyseal anadysplasia type 1 presenting with rickets-like manifestations in a family.Semantic proximity Read ↗

CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome.Semantic proximity Read ↗

Abnormal Proteoglycan Synthesis Due to Gene Defects Causes Skeletal Diseases with Overlapping Phenotypes.Semantic proximity Read ↗

Musculocontractural type of Ehlers-Danlos syndrome with novel CHST14 pathogenic variant in two siblings.Semantic proximity Read ↗

Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two WISP3 mutations, one previously unreported.Semantic proximity Read ↗

Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.Semantic proximity Read ↗

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