Clinical albinism score, presence of nystagmus and optic nerves defects are correlated with visual outcome in patients with oculocutaneous albinism

Hermansky–Pudlak syndrome: Mutation update

(2020) Marjan Huizing et al.   HUMAN MUTATION

Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non‐syndromic oculocutaneous albinism facilitates genetic diagnosis

(2019) Zilin Zhong et al.   Pigment Cell & Melanoma Research

Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors

(2019) Carolina Reato Marçon et al.   ANAIS BRASILEIROS DE DERMATOLOGIA

Molecular characterization of a series of 990 index patients with albinism

(2018) Eulalie Lasseaux et al.   Pigment Cell & Melanoma Research

The Phenotypic Spectrum of Albinism

(2018) Charlotte C. Kruijt et al.   OPHTHALMOLOGY

Hermansky-Pudlak syndrome genes are frequently mutated in patients with albinism from the Arabian Peninsula

(2016) A. O. Khan et al.   CLINICAL GENETICS

A cross-sectional examination of visual acuity by specific type of albinism

(2016) Caitlin Nosanov Winsor et al.   JOURNAL OF AAPOS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism

(2013) James A. Poulter et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation

(2013) Yonatan Perez et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics

(2013) Dimitre R. Simeonov et al.   HUMAN MUTATION

OCA5,a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24

(2012) T Kausar et al.   CLINICAL GENETICS

Oculocutaneous Albinism Type 3 (OCA3): Analysis of Two Novel Mutations in TYRP1 Gene in Two Chinese Patients

(2011) Kai-hui Zhang et al.   CELL BIOCHEMISTRY AND BIOPHYSICS

Structural Grading of Foveal Hypoplasia Using Spectral-Domain Optical Coherence Tomography

(2011) Mervyn G. Thomas et al.   OPHTHALMOLOGY

The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism

(2009) William S. Oetting et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A