Holoprosencephaly: ZIC2 mutation in a case with panhypopituitarism
Özet
Background: Holoprosencephaly (HPE), the most common malformation of the brain, results from failed or incomplete separation of the embryonic forebrain (prosencephalon). HPE occurs in approximately 1 in 250 embryos and in about 1 in 10,000 births. It is etiologically heterogeneous, and may be caused by cytogenetic anomalies and teratogenic influences; it occurs as part of a syndrome, or due to heterozygous mutations in 1 of over 10 HPE-associated genes. ZIC2 mutations are the second-most common cause of non-syndromic non-chromosomal HPE (after sonic hedgehog) and occur de novo in 74% of the affected probands.
Atıf için künye
Taşdemir, Ş., Şahin, İ., Çayır, A., Döneray, H., Solomon, B. D., Muenke, M., Yuce, I., & Tatar, A. (2014). Holoprosencephaly: ZIC2 mutation in a case with panhypopituitarism. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 27, 777–781. https://doi.org/10.1515/jpem-2013-0449
BibTeX
@article{tasdemir2014-222691,
author = {Taşdemir, Şener and Şahin, İbrahim and Çayır, Atilla and Döneray, Hakan and Solomon, Benjamin D. and Muenke, Maximilian and Yuce, Ihsan and Tatar, Abdulgani},
title = {Holoprosencephaly: ZIC2 mutation in a case with panhypopituitarism},
journal = {JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM},
year = {2014},
volume = {27},
pages = {777--781},
issn = {0334-018X},
doi = {10.1515/jpem-2013-0449},
url = {https://akademik.atauni.edu.tr/yayinlar/222691-holoprosencephaly-zic2-mutation-in-a-case-with-panhypopituitarism}
}