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

[Phenotype-genotype correspondence in spinal muscular atrophy in a Moroccan family].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Jul 2008

They-They T P, Nadifi S, Dehbi H, Bellayou H, Brik H, Slassi I, Itri M

Abstract excerpt

Spinal muscular atrophy (SMA) is an autosomal recessive disorder with a highly variable clinical course and prognosis. We report on the cases of three siblings with SMA. The weakness muscular observes at three siblings but more earlier and severe to the index case with a fast evolution towards respiratory distress syndrome resulting in its death at 5 years. The homozygous deletions of exons 7 and 8 of the...

Read the complete abstract on PubMed

Topics

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

Share to Cyclic AMP Response Element-Binding Protein
Share to Gene Amplification

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Deletion

Share to Morocco

Share to Muscular Atrophy, Spinal

Share to Nerve Tissue Proteins

Share to RNA-Binding Proteins

Share to SMN Complex Proteins

Source

Identifiers

PMID: 18538551
DOI: 10.1016/j.arcped.2008.04.015

Genes

NAIP

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

[Phenotype-genotype correspondence in spinal muscular atrophy in a Moroccan family].PMID 18538551Read ↗

[Infantile spinal atrophy: our experience in the last 25 years].Semantic proximity Read ↗

[Molecular basis of spinal muscular atrophy: th SMN gene].Semantic proximity Read ↗

[Clinical practice guidelines for spinal muscular atrophy].Semantic proximity Read ↗

[Diagnostic progress in spinal muscular atrophy].Semantic proximity Read ↗

[Pseudodominant inheritance of spinal muscular atrophy--father and son suffering from SMA].Semantic proximity Read ↗

[Prenatal diagnosis of spinal muscular atrophy (SMA) -- indications, restrictions, interpretation of results].Semantic proximity Read ↗

A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene.Semantic proximity Read ↗

[Spinal muscular atrophy mimicking myotonic dystrophy: a case report and clinical, pathological and genetic analysis].Semantic proximity Read ↗

[Quantitative analysis of the genes determining spinal muscular atrophy].Semantic proximity Read ↗

Spinal muscular atrophy carrier frequency and estimated prevalence of the disease in Moroccan newborns.Semantic proximity Read ↗

A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy.Semantic proximity Read ↗

Phenotype and genotype correlation in childhood spinal muscular atrophy.Semantic proximity Read ↗

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