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

Expansion of the CCDC22 associated Ritscher-Schinzel/3C syndrome and review of the literature: Should the minimal diagnostic criteria be revised?

European journal of medical genetics - 1 Jul 2021

Gjerulfsen Cathrine E, Møller Rikke S, Fenger Christina D, Hammer Trine B, Bayat Allan

Abstract excerpt

The Ritscher-Schinzel syndrome (RTSCS) is a rare condition with craniofacial, cardiac and fossa posterior abnormalities. RTSCS is subdivided into Ritscher-Schinzel syndrome 1 (RTSCS1) caused by pathogenic variants in coiled-coil domain-containing protein 22 (CCDC22), and Ritscher-Schinzel syndrome 2 (RTSCS2) caused by pathogenic variants in WASH complex subunit 5 (WASHC5). CCDC22 is inherited in an X-linked...

Topics

Join the communities discussing this publication.

Abnormalities, Multiple
Adolescent
Craniofacial Abnormalities
Diagnosis, Differential
Heart Septal Defects, Atrial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation, Missense

Source

Identifiers

PMID: 34020006
DOI: 10.1016/j.ejmg.2021.104246

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Expansion of the CCDC22 associated Ritscher-Schinzel/3C syndrome and review of the literature: Should the minimal diagnostic criteria be revised?PMID 34020006Read ↗

Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes.Semantic proximity Read ↗

[Ritscher-Schinzel syndrome caused by CCDC22 gene mutation: a case report].Semantic proximity Read ↗

Delineating the CCDC22-related Ritscher-Schinzel syndrome phenotype in the original family.Semantic proximity Read ↗

[A phenotypic description of 26 patients with Ritscher-Schinzel syndrome (cranio-cerebello-cardiac dysplasia or 3C syndrome)].Semantic proximity Read ↗

First reported case of an inherited PACS2 pathogenic variant with variable expressionSemantic proximity Read ↗

Characteristics of Developmental and Epileptic Encephalopathy Associated with PACS2 p.Glu209Lys Pathogenic Variant-Our Experience and Systematic Review of the Literature.Semantic proximity Read ↗

PACS gene family-related neurological diseases: limited genotypes and diverse phenotypes.Semantic proximity Read ↗

Rare Gene Mutations in Romanian Hypoacusis Patients: Case Series and a Review of the Literature.Semantic proximity Read ↗

MTSS2 -Related Disorder: Refining the Phenotype in Four New Cases and Literature Review.Semantic proximity Read ↗

A rare cause of epileptic encephalopathy: case report of a novel patient with PEHO-like phenotype and CCDC88A gene pathogenic variants.Semantic proximity Read ↗

Extending the phenotype of DeSanto-Shinawi syndrome: A case report and literature review.Semantic proximity Read ↗

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.Semantic proximity Read ↗

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