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Article

FOXI2: a possible gene contributing to ectodermal dysplasia.

European journal of dermatology : EJD - 1 Dec 2017

Kurban Mazen, Zeineddine Savo Bou, Hamie Lamiaa, Safi Remi, Abbas Ossama, Kibbi Abdul Ghani, Bitar Fadi, Nemer Georges

Abstract excerpt

Cardio-facio-cutaneous syndrome (CFC), Noonan syndrome (NS), and Costello syndrome are a group of diseases that belong to the RASopathies. The syndromes share clinical features making diagnosis a challenge. To investigate the phenotype and genotype of a 10-year-old Iraqi girl with overlapping features of CFC, NS, and Costello syndromes, with additional features of ectodermal dysplasia. DNA was examined by exome...

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Source

Identifiers

PMID: 29165300
DOI: 10.1684/ejd.2017.3130

Genes

FOXI2
SOS1

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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