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Article

Two- and three-dimensional sonographic findings of harlequin ichthyosis: case report and literature review.

Anais brasileiros de dermatologia - 1 Jan 2000

Liu Zesi, Jing Chunli

Abstract excerpt

BACKGROUND: Harlequin ichthyosis (HI) is a rare skin disorder with extremely high lethality due to a mutation of the ABCA12 gene. Because of its rarity and the often-late onset, prenatal screening for HI is extremely difficult, and most pregnant women might easily miss the period for optimal examinations. OBJECTIVE: To summarize the sonographic features of HI for prenatal diagnostic purposes. METHODS: The authors...

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Identifiers

PMID: 37355352
DOI: 10.1016/j.abd.2022.09.013
PMCID: PMC10589490

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