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Ophthalmic Genetics Volume 38, 2017 - Issue 2
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Letters to the Journal

Cutaneous freckling: Possible new clinical marker for the diagnosis of Hermansky-Pudlak syndrome in Indian Asian patients with oculocutaneous albinism

Karthikeyan Arcot SadagopanVisiting Volunteer Faculty, Pediatric Ophthalmology and Ocular Genetics, Department of Pediatric Ophthalmology and Adult Strabismus, Aravind Eye Hospital, Madurai, India;Senior Consultant and International Faculty, Pediatric Ophthalmology & Ocular Genetics, CMER (Shenzhen) Dennis Lam Hospital, Shenzhen, China;Honorary Consultant, Lumbini Eye Institute, Siddarthanagar, NepalCorrespondence[email protected]
,
Renugadevi KathirvelDepartment of Genetics, Aravind Medical Research Foundation, Madurai, India
,
Rosanne B. KeepCertified Genetic Counselor, North Wales, Pennsylvania, USA
,
P. SundaresanDepartment of Genetics, Aravind Medical Research Foundation, Madurai, India
,
Hui HuangBGI-Shenzhen, Shenzhen, China
,
Arndt RolfsAlbrecht Kossel Institute for Neuroregeneration, University of Rostock, Rostock, Germany;Centogene AG, Institute for Rare Diseases, Rostock, Germany
,
Kannan ParthibanConstultant Dermatologist, Madurai, India
&
P. VijayalakshmiDepartment of Pediatric Ophthalmology and Adult Strabismus, Aravind Eye Hospital, Madurai, India
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Pages 194-196 | Published online: 13 May 2016

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Karthikeyan Arcot Sadagopan, Chih-Hao Teng, Gong Hui & Ding Ling Lin. (2023) Ocular findings and a comparative study of hair, skin and iris color in Chinese patients with albinism. Ophthalmic Genetics 44:1, pages 54-69.
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Articles from other publishers (2)

Zhao-Xia Wang, Yi-Hui Liu, Yi Dong, Ya-Li Li, Tie-Yu Tang & Liang-Liang Fan. (2021) Whole-Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of HPS3 in a Consanguineous Family with Hermansky-Pudlak Syndrome. BioMed Research International 2021, pages 1-7.
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Marjan Huizing, May C. V. Malicdan, Jennifer A. Wang, Hadass Pri‐Chen, Richard A. Hess, Roxanne Fischer, Kevin J. O'Brien, Melissa A. Merideth, William A. Gahl & Bernadette R. Gochuico. (2020) Hermansky–Pudlak syndrome: Mutation update. Human Mutation 41:3, pages 543-580.
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