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Article

Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity.

Genes - 13 Jun 2022

Rabie Eman A, Sayed Inas S M, Amr Khalda, Ahmed Hoda A, Mostafa Mostafa I, Hassib Nehal F, El-Sayed Heba, Zada Suher K, El-Kamah Ghada

Abstract excerpt

Ectodermal dysplasia (ED) are hereditary disorders characterized by the disturbance of the ectodermal development of at least two of four ectodermal tissues: teeth, hair, nails and sweat glands. Clinical classification of ED is challenged by overlapping features, variable expressivity, and low number of patients, hindering full phenotypic spectrum identification. Disease-causing variants in elements of major...

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Identifiers

PMID: 35741818
DOI: 10.3390/genes13061056
PMCID: PMC9222913

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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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