The ophthalmic presentation of Hermansky-Pudlak syndrome 6.

Hull, Sarah

The ophthalmic presentation of Hermansky-Pudlak syndrome 6. [electronic resource] - The British journal of ophthalmology Nov 2016 - 1521-1524 p. digital

Publication Type: Case Reports; Journal Article

1468-2079

10.1136/bjophthalmol-2015-308067 doi


Adolescent
Adult
Child
Child, Preschool
DNA--genetics
DNA Mutational Analysis
Exons
Female
Hermanski-Pudlak Syndrome--diagnosis
Humans
Infant
Intracellular Signaling Peptides and Proteins--genetics
Male
Mutation
Pedigree
Siblings
Tomography, Optical Coherence
Young Adult