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Article

Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome.

Journal of human genetics - 1 Sept 2017

Nagasaka Miwako, Taniguchi-Ikeda Mariko, Inagaki Hidehito, Ouchi Yuya, Kurokawa Daisuke, Yamana Keiji, Harada Risa, Nozu Kandai, Sakai Yoshitada, Mishra Sushil K, Yamaguchi Yoshiki, Morioka Ichiro, Toda Tatsushi, Kurahashi Hiroki, Iijima Kazumoto

Abstract excerpt

Adams-Oliver syndrome (AOS, OMIM; 100300) is a rare genetic disease characterized by aplasia cutis congenita, terminal transverse limb defects and cutis marmorata with vascular anomalies such as congenital heart defects. The etiology of this syndrome has remained largely unknown but defective Notch signaling during vascular formation has been suggested. Here we describe a sporadic Japanese newborn case with...

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Share to Adaptor Proteins, Signal Transducing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ectodermal Dysplasia

Share to Intercellular Signaling Peptides and Proteins

Share to Limb Deformities, Congenital

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Source

Identifiers

PMID: 28446798
DOI: 10.1038/jhg.2017.48

Genes

DLL4
NOTCH1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome.PMID 28446798Read ↗

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Mutations in NOTCH1 cause Adams-Oliver syndrome.Semantic proximity Read ↗

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Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype.Semantic proximity Read ↗

DLL4 loss-of-function heterozygous mutations cause Adams-Oliver syndrome.Semantic proximity Read ↗

Adams-Oliver Syndrome: A Comprehensive Literature Review of Clinical, Nutritional, Genetic, and Molecular Aspects with Nursing Care Considerations.Semantic proximity Read ↗

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.Semantic proximity Read ↗

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