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Article

Expanding the spectrum of CEP55-associated disease to viable phenotypes.

American journal of medical genetics. Part A - 1 May 2020

Barrie Elizabeth S, Overwater Eline, van Haelst Mieke M, Motazacker M Mahdi, Truxal Kristen V, Crist Erin, Mostafavi Roya, Pivnick Eniko K, Choudhri Asim F, Narumanchi TaraChandra, Castelluccio Valerie, Walsh Laurence E, Garganta Cheryl, Gastier-Foster Julie M

Abstract excerpt

Homozygosity for nonsense variants in CEP55 has been associated with a lethal condition characterized by multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly (MARCH syndrome) also known as Meckel-like syndrome. Missense variants in CEP55 have not previously been reported in association with disease. Here we describe seven living individuals from five families with...

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Identifiers

PMID: 32100459
DOI: 10.1002/ajmg.a.61512

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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