Hull, Sarah <br/><br/>
The ophthalmic presentation of Hermansky-Pudlak syndrome 6.  [electronic resource] 

 -  The British journal of ophthalmology  Nov 2016 
 - 1521-1524 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1468-2079 
<br/><br/><label>Standard No.: </label>10.1136/bjophthalmol-2015-308067  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Child<br/>Child, Preschool<br/>DNA--genetics<br/>DNA Mutational Analysis<br/>Exons<br/>Female<br/>Hermanski-Pudlak Syndrome--diagnosis<br/>Humans<br/>Infant<br/>Intracellular Signaling Peptides and Proteins--genetics<br/>Male<br/>Mutation<br/>Pedigree<br/>Siblings<br/>Tomography, Optical Coherence<br/>Young Adult