title: Cutaneous freckling: Possible new clinical marker for the diagnosis of Hermansky-Pudlak syndrome in Indian Asian patients with oculocutaneous albinism.
authors.affiliation: a Visiting Volunteer Faculty, Pediatric Ophthalmology and Ocular Genetics , Department of Pediatric Ophthalmology and Adult Strabismus, Aravind Eye Hospital , Madurai , India.|b Senior Consultant and International Faculty , Pediatric Ophthalmology & Ocular Genetics, CMER (Shenzhen) Dennis Lam Hospital , Shenzhen , China.|c Honorary Consultant, Lumbini Eye Institute , Siddarthanagar , Nepal.
authors.forename: Karthikeyan
authors.initials: K
authors.lastname: Arcot Sadagopan
authors.affiliation: d Department of Genetics, Aravind Medical Research Foundation , Madurai , India.
authors.forename: Renugadevi
authors.initials: R
authors.lastname: Kathirvel
authors.affiliation: e Certified Genetic Counselor , North Wales , Pennsylvania , USA.
authors.forename: Rosanne B
authors.initials: RB
authors.lastname: Keep
authors.affiliation: d Department of Genetics, Aravind Medical Research Foundation , Madurai , India.
authors.forename: P
authors.initials: P
authors.lastname: Sundaresan
authors.affiliation: f BGI-Shenzhen, Shenzhen , China.
authors.forename: Hui
authors.initials: H
authors.lastname: Huang
authors.affiliation: g Albrecht Kossel Institute for Neuroregeneration, University of Rostock , Rostock , Germany.|h Centogene AG, Institute for Rare Diseases , Rostock , Germany.
authors.forename: Arndt
authors.initials: A
authors.lastname: Rolfs
authors.affiliation: i Constultant Dermatologist , Madurai , India.
authors.forename: Kannan
authors.initials: K
authors.lastname: Parthiban
authors.affiliation: j Department of Pediatric Ophthalmology and Adult Strabismus , Aravind Eye Hospital , Madurai , India.
authors.forename: P
authors.initials: P
authors.lastname: Vijayalakshmi
mesh_terms: D016115:Albinism, Oculocutaneous / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics; D044466:Asian People / Q000208:ethnology; D015415:Biomarkers; D002352:Carrier Proteins / Q000235:genetics; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D020662:Guanine Nucleotide Exchange Factors; D022861:Hermanski-Pudlak Syndrome / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics; D006801:Humans; D007194:India / Q000453:epidemiology; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D008548:Melanosis / Q000175:diagnosis*; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics; D012880:Skin Pigmentation
chemical_list: D015415:Biomarkers; D002352:Carrier Proteins; D020662:Guanine Nucleotide Exchange Factors; C102160:HPS1 protein, human; C432680:HPS3 protein, human; C451752:HPS4 protein, human; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; D011506:Proteins