Results 41 to 50 of about 7,863 (174)

Hermansky–Pudlak Syndrome Type 6 Accompanied with Bowel Vascular Malformation: Clinical Case

Вопросы современной педиатрии, 2021
Background. Hermansky–Pudlak syndrome type 6 is rare hereditary disease caused by pathogenic variants in base sequence, deletions, and insertions in the HPS6 gene encoding the transmembrane protein of the same name.
Natalia V. Zhurkova, Nato D. Vashakmadze, Natella V. Suhanova, Grigorii V. Revunenekov, Olga B. Gordeeva, Maria V. Egorova, Dmitriy S. Ovchinnikov, Vitaliy V. Kadyshev, Rena A. Zhinchenko, Leyla S. Namazova-Baranova   +9 more
doaj   +1 more source

Bilateral atypical lamellar holes in a patient with oculocutaneous albinism

, 2020
Albinism can present with a wide range of ophthalmic findings and variable expressivity. With the use of optical coherence tomography, there has been increasing awareness of the variability of macular findings in this condition.
Acon, Dhariana, Negron, Catherin I, Patel, Nimesh A, McKeown, Craig, Berrocal, Audina M, Falcone, Michelle M, Yannuzzi, Nicolas A   +6 more
core   +1 more source

Hermansky-Pudlak syndrome

Muller Journal of Medical Sciences and Research, 2014
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism, bleeding diathesis and lysosomal deposition of ceroid lipofuscin pigment.
Prabodh Panchadhyayee, Arnab Saha, Kaushik Saha, Rupam Kumar Ta, Pratik Barma   +4 more
doaj   +1 more source

Molecular Basis of Oculocutaneous Albinism.

Journal of Investigative Dermatology, 1994
Oculocutaneous albinism (OCA) is a complex group of genetic disorders that have historically been defined by clinical and biochemical methods. Recent advances in the molecular biology of pigmentation have greatly increased our understanding of the complexity of this group of disorders.
Getting, William S, King, Richard A
openaire   +2 more sources

Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism

Frontiers in Genetics, 2021
BackgroundTyrosinase-positive oculocutaneous albinism (OCA, type II, OCA2) is an autosomal recessive genetic disease in which the biosynthesis of melanin decreases in the skin, hair, and eyes. OCA2 disease is caused by mutations in OCA2 gene.
Linya Ma, Jianjian Zhu, Jing Wang, Yazhou Huang, Jibo Zhang, Chao Wang, Yuan Zhou, Dan Peng, Dan Peng   +8 more
doaj   +1 more source

Quality of life in patients with oculocutaneous albinism [PDF]

Anais Brasileiros de Dermatologia, 2015
BACKGROUND:The social reality of the albino needs to be more studied in Brazil, as myths and social segregation regarding this illness are likely to be found in the country, with psychosocial and medical implications.OBJECTIVE:As this subject has not ...
Marcus Maia, Beatrice Mussio Fornazier Volpini, Gabriela Alves dos Santos, Maria Josefa Penon Rujula   +3 more
doaj   +1 more source

Dopachrome tautomerase variants in patients with oculocutaneous albinism [PDF]

, 2021
Purpose: Albinism is a clinically and genetically heterogeneous condition. Despite analysis of the 20 known genes, ~30% patients remain unsolved. We aimed to identify new genes involved in albinism.
Josseline Kaplan, Sophie Javerzat, Arveiler, Benoit, Lacombe, Didier, Jackson, Ian J, Gazova, Ivet, Javerzat, Sophie, Iveta Gazova, Plaisant, Claudio, Benoit Arveiler, Ian Jackson, Vincent Michaud, Cédric Delevoye, Marlin, Sandrine, GAZOVA, Iveta, Kaplan, Josseline, Delevoye, Cédric, Angèle Tingaud-Sequeira, Claudio Plaisant, GHERBI HALEM, Souad, Halem, Souad Gherbi, Sandrine Marlin, Michaud, Vincent, Lasseaux, Eulalie, Perrine Pennamen, Souad Gherbi Halem, Lisa McKie, Pennamen, Perrine, Margaret Keighren, Keighren, Margaret, McKie, Lisa, JACKSON, Ian, Eulalie Lasseaux, Didier Lacombe, Tingaud-Sequeira, Angele   +34 more
core   +1 more source

Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication

Biomedical Papers, 2015
Background: Chromosomal duplications involving 17p13.3 have recently been defined as a new distinctive syndrome with several diagnosed patients. Some variation is known to occur in the breakpoints of the duplicated region and, consequently, in the ...
Marzena Kucharczyk, Aleksandra Jezela-Stanek, Dorota Gieruszczak-Bialek, Monika Kugaudo, Agata Cieslikowska, Magdalena Pelc, Malgorzata Krajewska-Walasek   +6 more
doaj   +1 more source

Dermatoscopy of pigmented melanocytic nevi in patients with oculocutaneous albinism

, 2009
Oculocutaneous albinism is a group of rare inherited disorders of pigmentation. Some albinos may have a certain degree of melanin production and, consequently, may develop pigmented lesions during their lives.
ZALAUDEK, IRIS
core   +2 more sources

Children with albinism in African regions: their rights to ‘being’ and ‘doing’

BMC International Health and Human Rights, 2018
Background Albinism is an inherited condition with a relatively high prevalence in populations throughout sub-Saharan Africa. People with oculocutaneous albinism have little or no pigment in their hair, skin and eyes; thus they are visually impaired and ...
Anita Franklin, Patricia Lund, Caroline Bradbury-Jones, Julie Taylor   +3 more
doaj   +1 more source