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 Coffin-Siris syndrome with anorectal malformations: Case report and review of the literature.

European journal of medical genetics - 1 Jun 2024

Alharbi Ralah, Suchet-Dechaud Anna, Harzallah Inès, Touraine Renaud, Ramond Francis

Abstract excerpt

Anorectal malformations (ARMs) represent a wide spectrum of congenital anomalies of the anus and rectum, of which more than half are syndromic. Their etiology is highly heterogeneous and still poorly understood. We report a 4-year-old girl who initially presented with an isolated ARM, and subsequently developed a global developmental delay as part of an ARID1B-related Coffin-Siris syndrome (CSS). A co-occurrence...

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 Anal Canal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Helicases

Share to Hand Deformities, Congenital

Share to Intellectual Disability

Share to Micrognathism

Source

Identifiers

PMID: 38735569
DOI: 10.1016/j.ejmg.2024.104948

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 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 Coffin-Siris syndrome with anorectal malformations: Case report and review of the literature.PMID 38735569Read ↗

Anorectal Malformations are Part of the Phenotypic Spectrum of Coffin-Siris Syndrome: Case Report and Review of the LiteratureSemantic proximity Read ↗

SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.Semantic proximity Read ↗

ARID2, a milder cause of Coffin-Siris Syndrome? Broadening the phenotype with 17 additional individuals.Semantic proximity Read ↗

A boy with Coffin-Siris syndrome with a novel frameshift mutation in ARID1B.Semantic proximity Read ↗

Prenatal Coffin-Siris Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Disease.Semantic proximity Read ↗

Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome.Semantic proximity Read ↗

First data from a parent‐reported registry of 81 individuals with Coffin–Siris syndrome: Natural history and management recommendationsSemantic proximity Read ↗

Expanding the Coffin-Siris syndrome spectrum: genetic, dysmorphic, and endocrine findings in eight cases.Semantic proximity Read ↗

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.Semantic proximity Read ↗

Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.Semantic proximity Read ↗

Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.Semantic proximity Read ↗

Genotype and phenotype in 18 Chinese patients with Coffin-Siris syndrome.Semantic proximity Read ↗

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