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

Abnormal brain magnetic resonance imaging in two patients with Smith-Magenis syndrome.

American journal of medical genetics. Part A - 1 Aug 2014

Maya Idit, Vinkler Chana, Konen Osnat, Kornreich Liora, Steinberg Tamar, Yeshaya Josepha, Latarowski Victoria, Shohat Mordechai, Lev Dorit, Baris Hagit N

Abstract excerpt

Smith-Magenis syndrome (SMS) is a clinically recognizable contiguous gene syndrome ascribed to an interstitial deletion in chromosome 17p11.2. Seventy percent of SMS patients have a common deletion interval spanning 3.5 megabases (Mb). Clinical features of SMS include characteristic mild dysmorphic features, ocular anomalies, short stature, brachydactyly, and hypotonia. SMS patients have a unique neurobehavioral...

Read the complete abstract on PubMed

Topics

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

Share to Brain
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosome Deletion

Share to Chromosomes, Human, Pair 17

Share to Facies

Share to Magnetic Resonance Imaging

Share to Smith-Magenis Syndrome

Share to Young Adult

Source

Identifiers

PMID: 24788350
DOI: 10.1002/ajmg.a.36583

Genes

SMS

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

Abnormal brain magnetic resonance imaging in two patients with Smith-Magenis syndrome.PMID 24788350Read ↗

A case report of monozygotic twins with Smith-Magenis syndrome.Semantic proximity Read ↗

A Turkish patient with large 17p11.2 deletion presenting with Smith Magenis syndrome.Semantic proximity Read ↗

Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)Semantic proximity Read ↗

Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort.Semantic proximity Read ↗

[Diagnostic difficulties in Smith-Magenis Syndrome (SMS) on the basis of own experience and literature data].Semantic proximity Read ↗

Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype.Semantic proximity Read ↗

Neuroimaging Findings in Moebius SequenceSemantic proximity Read ↗

Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2).Semantic proximity Read ↗

Novel <em>De Novo RAI1</em>:c.2736delC Variant Identified in A Child with Features of Smith-Magenis: Insight from Whole Genomes Joint AnalysisSemantic proximity Read ↗

Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic causeSemantic proximity Read ↗

Shwachman-Diamond syndrome is associated with structural brain alterations on MRI.Semantic proximity Read ↗

Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication.Semantic proximity Read ↗

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