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Article

A novel DLL4 mutation in Adams-Oliver syndrome with absence of the right pulmonary artery in newborn.

American journal of medical genetics. Part A - 1 Feb 2022

Rojnueangnit Kitiwan, Phawan Thanyalak, Khetkham Thanitchet, Techasatid Wilaiporn, Sirichongkolthong Boonchu

Abstract excerpt

Adams-Oliver syndrome (AOS), a rare inherited disorder, is characterized by scalp and terminal limb defects. Several genes associated with Notch pathway mutations have led to AOS. Here, we report a Thai male newborn presenting with aplasia cutis congenita and absence of a right pulmonary artery, which is suggestive of AOS. This was confirmed by the identification of a novel missense mutation in DLL4, a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ectodermal Dysplasia

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Source

Identifiers

PMID: 34755929
DOI: 10.1002/ajmg.a.62562

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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