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

[HIGH INCIDENCE AND BROAD GENETIC VARIABILITY OF MECKEL-GRUBER SYNDROME IN THE ARAB POPULATION RESIDING IN NORTH-EAST ISRAEL].

Harefuah - 1 Oct 2015

Aalimi Ula, Spiegel Etty, Chervinsky Ilana, Attie-Bitach Tania, Elkhartoufi Nadia, Saunier Sophie, Vekemans Michel, Abulil-Zuabi Ulfat, Chemke Moshe, Spiegel Ronen, Salev Stavit

Abstract excerpt

BACKGROUND: Meckel-Gruber syndrome (MKS) is a lethal rare inherited autosomal recessive disease. The syndrome is characterized by multiple congenital anomalies including polycystic kidneys, occipital encephalocele and polydactyly. The presence of two out of these anomalies is sufficient for a definitive diagnosis. At least 11 genes have been reported to-date to underlie MKS. METHODS: In the current study we have...

Read the complete abstract on PubMed

Topics

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

Share to Arabs
Share to Ciliary Motility Disorders

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Encephalocele

Share to Incidence

Share to Israel

Share to Polycystic Kidney Diseases

Share to Prenatal Diagnosis

Share to Retinitis Pigmentosa

Source

Identifiers

PMID: 26742224

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[HIGH INCIDENCE AND BROAD GENETIC VARIABILITY OF MECKEL-GRUBER SYNDROME IN THE ARAB POPULATION RESIDING IN NORTH-EAST ISRAEL].PMID 26742224Read ↗

Meckel–Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in EuropeSemantic proximity Read ↗

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.Semantic proximity Read ↗

[Genetic analysis of a fetus with Meckel syndrome due to variants of TMEM67 gene].Semantic proximity Read ↗

Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients.Semantic proximity Read ↗

Uniparental disomy as an unexpected cause of Meckel-Gruber syndrome: report of a case.Semantic proximity Read ↗

Genetic diversity among the Arabs.Semantic proximity Read ↗

Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotypeSemantic proximity Read ↗

Meckel Gruber syndrome, A case report.Semantic proximity Read ↗

Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population.Semantic proximity Read ↗

Genetic heterogeneity of Meckel syndrome.Semantic proximity Read ↗

Prenatal diagnosis and carrier detection for molybdenum cofactor deficiency type A in northern Israel using polymorphic DNA markers.Semantic proximity Read ↗

Phenotypic variability in Meckel-Gruber syndrome.Semantic proximity Read ↗

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