Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23. 1-q23.3 [PDF]
, 2017 Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by the triad of tyrosinase-positive oculocutaneous albinism, bleeding diathesis due to storage-pool deficiency of platelets, and a lysosomal ceroid storage disease.
Almodóvar, Carmelo +4 more
core
Cataract surgery with implantation of small aperture acrylic hydrophobic IOL to reduce photophobia in a patient affected by oculocutaneous albinism. [PDF]
Am J Ophthalmol Case RepMularoni A +7 more
europepmc +1 more source
The ethnic profile of patients with birthmarks reveals interaction of germline and postzygotic genetics [PDF]
, 2017 Kinsler, VA, Polubothu, S
core +1 more source
The impact of stigma on people with albinism in Africa: a narrative review. [PDF]
J Community GenetKromberg JG, Kerr RA.
europepmc +1 more source
A Dosage-Dependent Dominant-Negative Mechanism of SLC45A2(W74R) in Autosomal Dominant Oculocutaneous Albinism Revealed by Zebrafish Modeling. [PDF]
Transl Vis Sci TechnolSurl D +10 more
europepmc +1 more source
Griscelli syndrome type 2: A rare case report of pediatric immunodeficiency and neurological implications. [PDF]
Medicine (Baltimore)Abubakir M +5 more
europepmc +1 more source
Cutaneous Depigmentation in a Child With Ocular Albinism Type 1: Expanding the Clinical Phenotype. [PDF]
CureusMonteiro M +4 more
europepmc +1 more source
Hermansky-Pudlak syndrome-rare type 10 with AP3D1 mutation. [PDF]
Oxf Med Case ReportsBalaraddi V, Nawlakhe K, K S, Bandiya P.
europepmc +1 more source
Correction of Abnormal Head Position in Pediatric Nystagmus Using Yoked Low-Value Prism Glasses: A Retrospective Study. [PDF]
Invest Ophthalmol Vis SciNsour G +8 more
europepmc +1 more source