Publications
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Filters: Author is Jhangiani, Shalini and Keyword is Follow-Up Studies [Clear All Filters]
Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population. Eur J Hum Genet. 2015 ;23(3):342-6.
. New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. JAMA Ophthalmol. 2015 ;133(2):133-9.
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