TY  - GEN
AU  - Hull,Sarah
AU  - Arno,Gavin
AU  - Holder,Graham E
AU  - Plagnol,Vincent
AU  - Gomez,Keith
AU  - Liesner,Ri
AU  - Webster,Andrew R
AU  - Moore,Anthony T
TI  - The ophthalmic presentation of Hermansky-Pudlak syndrome 6
SN  - 1468-2079
PY  - 2017///0517
KW  - Adolescent
KW  - Adult
KW  - Child
KW  - Child, Preschool
KW  - DNA
KW  - genetics
KW  - DNA Mutational Analysis
KW  - Exons
KW  - Female
KW  - Hermanski-Pudlak Syndrome
KW  - diagnosis
KW  - Humans
KW  - Infant
KW  - Intracellular Signaling Peptides and Proteins
KW  - Male
KW  - Mutation
KW  - Pedigree
KW  - Siblings
KW  - Tomography, Optical Coherence
KW  - Young Adult
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1136/bjophthalmol-2015-308067
ER  -