A case report of a patient with Pfeiffer syndrome, an FGRF 2 mutation (Trp290Cys) and unique ocular anterior segment findings

Author: Barry Gerard P.   Ny Betina Mucha-Le   Zackai Elaine H.   Grunwald Lili   Forbes Brian J.  

Publisher: Informa Healthcare

ISSN: 1381-6810

Source: Ophthalmic Genetics, Vol.31, Iss.4, 2010-12, pp. : 193-195

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Abstract