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Article

From Clinical Observation to Genetic Confirmation: Somatic Mosaic Mutations in RHOA on Ectodermal Dysplasia With Multi-System Involvement.

American journal of medical genetics. Part A - 1 Apr 2025

Durmusalioglu Enise Avci, Dogan Yusuf Can, Tan Turkan Turkut, Cogulu Dilsah, Isik Esra, Cogulu Ozgur, Atik Tahir

Abstract excerpt

Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies (EDFAOB) is a rare neuroectodermal syndrome caused by somatic mosaic mutations in the RHOA gene. It presents with linear skin hypopigmentation, facial and limb asymmetry, dental and acral anomalies, and leukoencephalopathy, generally preserving intellectual and neurological functions. We report two cases of EDFAOB. Both cases...

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Identifiers

PMID: 39564940
DOI: 10.1002/ajmg.a.63934

Genes

RHOA

Variants

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