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Ophthalmic manifestations of Wolf-Hirschhorn syndrome.
Wu-Chen WY, Christiansen SP, Berry SA, Engel WK, Fray KJ, Summers CG. Wu-Chen WY, et al. Among authors: summers cg. J AAPOS. 2004 Aug;8(4):345-8. doi: 10.1016/j.jaapos.2004.04.009. J AAPOS. 2004. PMID: 15314595
A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9.
Cullinane AR, Curry JA, Carmona-Rivera C, Summers CG, Ciccone C, Cardillo ND, Dorward H, Hess RA, White JG, Adams D, Huizing M, Gahl WA. Cullinane AR, et al. Among authors: summers cg. Am J Hum Genet. 2011 Jun 10;88(6):778-787. doi: 10.1016/j.ajhg.2011.05.009. Am J Hum Genet. 2011. Retraction in: Am J Hum Genet. 2017 May 4;100(5):837. doi: 10.1016/j.ajhg.2017.04.011. PMID: 21665000 Free PMC article. Retracted.
Hermansky-Pudlak syndrome (HPS5) in a nonagenarian.
Summers CG, Schimmenti LA, Sperber S. Summers CG, et al. J AAPOS. 2014 Apr;18(2):209-10. doi: 10.1016/j.jaapos.2014.02.002. J AAPOS. 2014. PMID: 24698632 No abstract available.
158 results