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Article

Fatal hyperkeratosis syndrome in four siblings due to dolichol kinase deficiency.

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

Hall Bryan D, Stevenson Roger E, Jones Julie R

Abstract excerpt

A diagnostic journey began in 1966 when a male was born with a lethal hyperkeratosis of undetermined etiology, only to be followed by three additional siblings with the same unknown disorder. All four siblings had unique circumferential skin constrictions on all of their digits. They died within 5 days after birth with no diagnosis or etiology established. The first author (BDH) maintained notes, partial medical...

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Identifiers

PMID: 32250540
DOI: 10.1002/ajmg.a.61574

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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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