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A novel Fryns "Anophthalmia-plus" syndrome associated with primary hypothyroidism.
Genet Couns. 2005; 16(2):145-8.GC

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.

Authors+Show Affiliations

Ankara University School of Medicine, Department of Medical Genetics, 06100, Sihhiye, Ankara, Turkey.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

16080293

Citation

Akalin, I, et al. "A Novel Fryns "Anophthalmia-plus" Syndrome Associated With Primary Hypothyroidism." Genetic Counseling (Geneva, Switzerland), vol. 16, no. 2, 2005, pp. 145-8.
Akalin I, Senses DA, Ilgin-Ruhi H, et al. A novel Fryns "Anophthalmia-plus" syndrome associated with primary hypothyroidism. Genet Couns. 2005;16(2):145-8.
Akalin, I., Senses, D. A., Ilgin-Ruhi, H., Misirlioğlu, E., Yalçiner, M., Cetinkaya, E., Fryns, J. P., & Tükün, A. (2005). A novel Fryns "Anophthalmia-plus" syndrome associated with primary hypothyroidism. Genetic Counseling (Geneva, Switzerland), 16(2), 145-8.
Akalin I, et al. A Novel Fryns "Anophthalmia-plus" Syndrome Associated With Primary Hypothyroidism. Genet Couns. 2005;16(2):145-8. PubMed PMID: 16080293.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel Fryns "Anophthalmia-plus" syndrome associated with primary hypothyroidism. AU - Akalin,I, AU - Senses,D A, AU - Ilgin-Ruhi,H, AU - Misirlioğlu,E, AU - Yalçiner,M, AU - Cetinkaya,E, AU - Fryns,J P, AU - Tükün,A, PY - 2005/8/6/pubmed PY - 2006/1/13/medline PY - 2005/8/6/entrez SP - 145 EP - 8 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 16 IS - 2 N2 - 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. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/16080293/A_novel_Fryns_"Anophthalmia_plus"_syndrome_associated_with_primary_hypothyroidism_ L2 - http://www.diseaseinfosearch.org/result/501 DB - PRIME DP - Unbound Medicine ER -