GENETIC COUNSELING, cilt.16, ss.145-148, 2005 (SCI İndekslerine Giren Dergi)
A novel Fryns << anophthalmia-plus >> syndrome associated with primary hypothyroldism: Here, we report a newborn male with << anophthalmia-plus >> syndrome and primary congenital hypothyroidism. To our knowledge this is the first case of 'anophthalmia-plus' syndrome associated with congenital hypothyroidism In the literature up to date.