A novel Fryns "Anophthalmia-plus" syndrome associated with primary hypothyroidism |
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| Authors: | Akalin I Senses D A Ilgin-Ruhi H Misirlio?lu E Yalçiner M Cetinkaya E Fryns J P Tükün A |
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| Institution: | Ankara University School of Medicine, Department of Medical Genetics, 06100, Sihhiye, Ankara, Turkey. |
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| Abstract: | A novel Fryns "anophthalmla-plus" syndrome associated with primary hypothyroidism: 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. |
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