Articles with "alox12b mutations" as a keyword



PA05 Two babies with self-improving collodion ichthyosis with ALOX12B mutations demonstrating novel diagnostic clinical signs

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Published in 2025 at "British Journal of Dermatology"

DOI: 10.1093/bjd/ljaf085.364

Abstract: Baby C was born at 36 + 4 weeks by spontaneous vaginal delivery and was transferred to Oxford on day two of life. On examination she had a yellow parchment-like collodion with hyperkeratotic plaques over… read more here.

Keywords: ichthyosis; collodion; novel diagnostic; alox12b mutations ... See more keywords