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

Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Sept 2014

Vergano Samantha S, Deardorff Matthew A

Abstract excerpt

Coffin-Siris syndrome (OMIM#135900) is a multiple congenital anomaly syndrome classically characterized by hypo- or aplasia of the fifth digit nails or phalanges, as well as coarse facial features, sparse scalp hair, and moderate to severe cognitive and/or developmental delay. The recent identification of molecular etiologies has served to effectively characterize a large set of patients who have been described...

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 Face
Share to Hand Deformities, Congenital

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

Share to Intellectual Disability

Share to Micrognathism

Share to Mutation

Share to Practice Guidelines as Topic

Source

Identifiers

PMID: 25169447
DOI: 10.1002/ajmg.c.31411

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

Clinical features, diagnostic criteria, and management of Coffin-Siris syndrome.PMID 25169447Read ↗

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 ↗

The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases.Semantic proximity Read ↗

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

Genetic abnormalities in a large cohort of Coffin–Siris syndrome patientsSemantic 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 ↗

DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.Semantic proximity Read ↗

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

Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome.Semantic proximity Read ↗

A rare Coffin-Siris syndrome induced by SOX11: a de novo nonsense variant of short stature.Semantic proximity Read ↗

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

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