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

Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant.

American journal of medical genetics. Part A - 1 Sept 2016

Yeetong Patra, Vilboux Thierry, Ciccone Carla, Boulier Kristin, Schnur Rhonda E, Gahl William A, Huizing Marjan, Laje Gonzalo, Smith Ann C M

Abstract excerpt

We report a 25-year-old female confirmed to have Smith-Magenis syndrome (SMS) due to a de novo RAI1 variant. Her past history is significant for developmental and intellectual delay, early and escalating maladaptive behaviors, and features consistent with significant sleep disturbance, the etiology of which was not confirmed for over two decades. The diagnosis of SMS was initially suspected in 1998 (at age 12...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 17

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Codon, Nonsense

Share to Delayed Diagnosis

Share to DNA Copy Number Variations

Share to Facies

Share to Smith-Magenis Syndrome

Share to Trans-Activators

Source

Open in PubMed Open full text

Identifiers

PMID: 27311559
DOI: 10.1002/ajmg.a.37602
PMCID: PMC8378306

Genes

SMS
RAI1

Variants

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

Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant.PMID 27311559Read ↗

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 ↗

Smith-Magenis Syndrome—Clinical Review, Biological Background and Related DisordersSemantic proximity Read ↗

First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation.Semantic proximity Read ↗

Behavioral phenotype and neuropsychological profile of an adult with Smith-Magenis Syndrome due to a previously unreported RAI1 mutation: A case reportSemantic proximity Read ↗

RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.Semantic proximity Read ↗

Intellectual and Behavioral Phenotypes of Smith-Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic RAI1 Variant.Semantic proximity Read ↗

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

A case of Smith-Magenis syndrome with skin manifestations caused by a novel locus mutation in the RAI1 gene.Semantic proximity Read ↗

A de novo mutation (p.S1419F) of Retinoic acid induced 1 is responsible for a patient with Smith-Magenis syndrome exhibiting schizophrenia.Semantic proximity Read ↗

Mutations in RAI1 associated with Smith-Magenis syndrome.Semantic proximity Read ↗

A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele.Semantic proximity Read ↗

First Case Report of Smith-Magenis Syndrome (SMS) Among the Arab Community in Nazareth: View and Overview.Semantic proximity Read ↗

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