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Article

SCYL1 disease and liver transplantation diagnosed by reanalysis of exome sequencing and deletion/duplication analysis of SCYL1.

American journal of medical genetics. Part A - 1 Apr 2021

McNiven Vanda, Gattini Daniela, Siddiqui Iram, Pelletier Stephane, Brill Herbert, Avitzur Yaron, Mercimek-Andrews Saadet

Abstract excerpt

SCYL1 disease results from biallelic pathogenic variants in SCYL1. We report two new patients with severe hepatic phenotype requiring liver transplantation. Patient charts reviewed. DNA samples and skin fibroblasts were utilized. Literature was reviewed. 13-year-old boy and 9-year-old girl siblings had acute liver insufficiency and underwent living related donor liver transplantation in infancy with no genetic...

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Identifiers

PMID: 33442927
DOI: 10.1002/ajmg.a.62079

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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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