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Article

Cernunnos deficiency: Further delineation in 5 Egyptian patients.

European journal of medical genetics - 1 Oct 2023

El Hawary Rabab, Meshaal Safa, Lotfy Sohilla, Abd Elaziz Dalia, Alkady Radwa, Eldash Alia, Erfan Aya, Chohayeb Engy, Saad Mai, Darwish Rania, Boutros Jeannette, Galal Nermeen, Elmarsafy Aisha

Abstract excerpt

Cernunnos deficiency is a rare genetic disorder characterized by immunodeficiency, microcephaly, growth retardation, bird-like facies, sensitivity to ionizing radiation, few autoimmune manifestations, premature aging of hematopoietic stem cells at an early age, and occasional myeloproliferative disease. Herein we present five Egyptian Cernunnos patients from 3 different families. We describe the patients'...

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Source

Identifiers

PMID: 37703920
DOI: 10.1016/j.ejmg.2023.104840

Genes

NHEJ1

Variants

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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