Work

A clinical case of albinism in a 12 year old child

Year: 2024

Type: article

Abstract: The article presents a clinical case of oculocutaneous albinism type 1A. The albinism type and concomitant diseases are determined. Oculocutaneous albinism is an inherited autosomal recessive disorder which is characterized by hypopigmentation of the skin and hair besides ocular albinism. Keywords: oculocutaneous albinism type 1A, reduced visual acuity, pigmentation, Yakutia, the Arctic

Source: Yakut Medical Journal

DOI: 10.25789/ymj.2024.88.30

Authors: M.S. Savvina, O.N. Ivanova, G.M. Melchanova, T.E. Burtseva, I.S. Ivanova, M.P. Slobodchikova

Language: English

Topic: melanin and skin pigmentation

Subfield: Cell Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4406715415

FWCI:

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