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Article

Aplasia cutis congenita in a CDC42-related developmental phenotype.

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

Schnabel Franziska, Kamphausen Susanne B, Funke Rudolf, Kaulfuß Silke, Wollnik Bernd, Zenker Martin

Abstract excerpt

Cell division cycle 42 (CDC42) is a small Rho GTPase, which serves as a fundamental intracellular signal node regulating actin cytoskeletal dynamics and several other integral cellular processes. CDC42-associated disorders encompass a broad clinical spectrum including Takenouchi-Kosaki syndrome, autoinflammatory syndromes and neurodevelopmental phenotypes mimicking RASopathies. Dysregulation of CDC42 signaling by...

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Identifiers

PMID: 33283961
DOI: 10.1002/ajmg.a.62009

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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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Aplasia cutis congenita in a CDC42-related developmental phenotype.PMID 33283961Read ↗

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