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November 2025 in “American Journal of Case Reports”

Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.

53 citations , August 2019 in “American journal of human genetics”

FOXN1 gene variants cause low T cells and immune issues from birth.

2 citations , January 2022 in “The Application of Clinical Genetics”

A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.

January 2026 in “Frontiers in Medicine”

A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.

March 2023 in “JAAD case reports”

A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.

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