A clinical case of albinism in a 12 year old child

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

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Publication Details

Journal
Yakut Medical Journal
Published
2024-12-30
DOI
https://doi.org/10.25789/ymj.2024.88.30
Primary Topic
melanin and skin pigmentation
Type
article
Field-Weighted Citation Impact
0.00
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article

A clinical case of albinism in a 12 year old child

M.P. Slobodchikova, О.Н. Иванова, T.E. Burtseva, M.S. Savvina et al.
Yakut Medical Journal
melanin and skin pigmentation
article

A clinical case of albinism in a 12 year old child

M.P. Slobodchikova, О.Н. Иванова, T.E. Burtseva, M.S. Savvina, I.S. Ivanova, G.M. Melchanova
article en

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

Yakut Medical JournalVol. 88(4)
Openalex Percentile: Top 74%
melanin and skin pigmentation
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A clinical case of albinism in a 12 year old child — M.P. Slobodchikova, О.Н. Иванова, et al. · Yakut Medical Journal (2024) | TGRS Research Map | TGRS