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Scientific Reports, ISSN 2045-2322, 03/2017, Volume 7, Issue 1, pp. 44185 - 44185
Journal Article
Acta Ophthalmologica, ISSN 1755-375X, 09/2017, Volume 95, Issue S259, p. n/a
Oculocutaneous albinism (OCA) is a group of genetic diseases with an autosomal dominant pattern. It affects skin, hair and eyes, leading in an hypopigmentation... 
Skin | Diagnosis | Ophthalmology | Albinism | Epidemiology | Hair | Hypoplasia | Visual observation | Organs | Retina | Visual acuity | Horizontal cells | Epithelium | Pigmentation | Genetic screening | Acuity | Atrophy | Translucence | Optical Coherence Tomography | Nystagmus | Retinal degeneration | Eye (anatomy) | Circulation
Journal Article
Journal Article
Journal Article
JOURNAL FRANCAIS D OPHTALMOLOGIE, ISSN 0181-5512, 12/2012, Volume 35, Issue 10, pp. 851 - 851
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 2014, Volume 55, Issue 7, pp. 4186 - 4198
Journal Article
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, ISSN 1003-9406, 02/2017, Volume 34, Issue 1, p. 73
To explore the clinical and genetic features of a Chinese boy with oculocutaneous albinism. The clinical features of the patient were analyzed. The DNA of the... 
Amino Acid Sequence | Albinism, Oculocutaneous - diagnosis | Oxidoreductases - genetics | Humans | Parents | Child, Preschool | Family Health | Male | Membrane Glycoproteins - genetics | Exome - genetics | Albinism, Oculocutaneous - genetics | Base Sequence | Female | Heterozygote | Mutation | High-Throughput Nucleotide Sequencing - methods
Journal Article
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