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

Expanding the clinical spectrum of SLC29A3 gene defects.

European journal of medical genetics - 1 Jan 2000

Spiegel Ronen, Cliffe Simon T, Buckley Michael F, Crow Yanick J, Urquhart Jill, Horovitz Yoseph, Tenenbaum-Rakover Yardena, Newman William G, Donnai Dian, Shalev Stavit A

Abstract excerpt

H syndrome and pigmented hypertrichosis with insulin dependent diabetes (PHID) are allelic autosomal recessive syndromes reported in the last year to be caused by mutations in the SLC29A3 gene, which encodes the equilibrative nucleoside transporter hENT3. Herein, we report three new patients from a single family who present with phenotypes that associate features of both PHID and H syndrome. Genetic analysis of...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Diabetes Mellitus

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Diseases, Inborn

Share to Heterozygote

Share to Hyperpigmentation

Share to Hypertrichosis

Share to Nucleoside Transport Proteins

Share to Syndrome

Source

Identifiers

PMID: 20619369
DOI: 10.1016/j.ejmg.2010.06.012

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

Expanding the clinical spectrum of SLC29A3 gene defects.PMID 20619369Read ↗

An Egyptian family with H syndrome due to a novel mutation in SLC29A3 illustrating overlapping features with pigmented hypertrichotic dermatosis with insulin-dependent diabetes and Faisalabad histiocytosis.Semantic proximity Read ↗

Homozygosity for a novel large deletion in SLC29A3 in a patient with H syndrome.Semantic proximity Read ↗

The H syndrome is caused by mutations in the nucleoside transporter hENT3.Semantic proximity Read ↗

Phenotypic intrafamilial variability including H syndrome and Rosai Dorfman Disease associated with the same c.1088G>A mutation in the SLC29A3 gene.Semantic proximity Read ↗

SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.Semantic proximity Read ↗

Phenotypic intrafamilial variability including H syndrome and Rosai-Dorfman disease associated with the same c.1088G > A mutation in the SLC29A3 gene.Semantic proximity Read ↗

Hyperglycemia with hypogonadism and growth hormone deficiency in a 17-year-old male with H Syndrome: The first case report from SyriaSemantic proximity Read ↗

Compound heterozygous SLC29A3 mutation causes H syndrome in a Moroccan patient: A case report.Semantic proximity Read ↗

Renal Involvement in H Syndrome, A Rare Cause of Diabetes Mellitus: Case Report.Semantic proximity Read ↗

H syndrome with a novel homozygous SLC29A3 mutation in two sisters.Semantic proximity Read ↗

Identification of a novel mutation in solute carrier family 29, member 3 in a Chinese patient with H syndrome.Semantic proximity Read ↗

H syndrome: A histiocytosis-lymphadenopathy plus syndrome. A comprehensive review of the literature.Semantic proximity Read ↗

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