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Article

Poikiloderma with neutropenia in a Tunisian patient with a novel C16orf57 gene mutation.

Pediatric blood & cancer - 1 Sept 2018

Sakka Rania, Mahjoub Bahri, Kerkeni Emna, Werdani Amina, Boussoffara Raoudha, Ben Cheikh Hassen, M'rad Ridha, Sfar Mohamed Taher

Abstract excerpt

Poikiloderma with neutropenia (PN) is a genodermatosis characterized by poikiloderma, permanent neutropenia, recurrent infections, nail abnormalities, and palmoplantar hyperkeratosis. We report the case of a Tunisian patient with PN. Skin lesions started from the face and spread to the extremities and trunk. Neutropenia was initially periodic and concomitant with infections periods. DNA analysis identified a...

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Identifiers

PMID: 29797650
DOI: 10.1002/pbc.27262

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Poikiloderma with neutropenia in a Tunisian patient with a novel C16orf57 gene mutation.PMID 29797650Read ↗

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