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Article

Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes.

European journal of medical genetics - 1 Nov 2022

Neri Sabrina, Maia Nuno, Fortuna Ana M, Damasio Joana, Coale Elizabeth, Willis Mary, Jorge Paula, Højte Anne F, Fenger Christina D, Møller Rikke S, Bayat Allan

Abstract excerpt

Ritscher-Schinzel syndrome (RTSCS) is a rare genetic condition characterized by peculiar craniofacial features and cerebellar and cardiovascular malformations. To date, four genes are implicated in this condition. The first two genes described were the autosomal recessive inherited gene WASHC5 associated with Ritscher-Schinzel syndrome 1 (RTSCS1), and CCDC22, an X-linked recessive gene causing Ritscher-Schinzel...

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PMID: 36130690
DOI: 10.1016/j.ejmg.2022.104624

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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.

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