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

Autor: Kannan Parthiban, Arndt Rolfs, Hui Huang, Renugadevi Kathirvel, Rosanne B Keep, Periasamy Sundaresan, Perumalsamy Vijayalakshmi, Karthikeyan Arcot Sadagopan
Rok vydání: 2016
Předmět:
0301 basic medicine
Male
DNA Mutational Analysis
Skin Pigmentation
medicine.disease_cause
Polymerase Chain Reaction
Melanosis
law.invention
0302 clinical medicine
law
hemic and lymphatic diseases
Medicine
Guanine Nucleotide Exchange Factors
Child
Genetics (clinical)
Polymerase chain reaction
Mutation
integumentary system
Intracellular Signaling Peptides and Proteins
respiratory system
Oculocutaneous albinism
Pedigree
Albinism
Oculocutaneous
Hermanski-Pudlak Syndrome
Albinism
Female
congenital
hereditary
and neonatal diseases and abnormalities
medicine.medical_specialty
Clinical marker
India
03 medical and health sciences
Asian People
Humans
business.industry
Membrane Proteins
Proteins
medicine.disease
Dermatology
eye diseases
Bleeding diathesis
Ophthalmology
030104 developmental biology
Pediatrics
Perinatology and Child Health
030221 ophthalmology & optometry
Hermansky–Pudlak syndrome
business
Carrier Proteins
Biomarkers
Zdroj: Ophthalmic genetics. 38(2)
ISSN: 1744-5094
Popis: Hermansky-Pudlak syndrome (HPS; MIM #203300) is a rare autosomal recessive disorder characterized by oculocutaneous albinism (OCA) and a bleeding diathesis. Other clinical features may include lyso...
Databáze: OpenAIRE
Externí odkaz: