Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency

Ligase IV syndrome is a rare differential diagnosis for Nijmegen breakage syndrome owing to a shared predisposition to lympho-reticular malignancies, significant microcephaly, and radiation hypersensitivity. Only 16 cases with mutations in LIG4 have been described to date with phenotypes varying fro...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Asıl Yazarlar: Murray, Jennie E, Bicknell, Louise S, Yigit, Gökhan, Duker, Angela L, van Kogelenberg, Margriet, Haghayegh, Sara, Wieczorek, Dagmar, Kayserili, Hülya, Albert, Michael H, Wise, Carol A, Brandon, January, Kleefstra, Tjitske, Warris, Adilia, van der Flier, Michiel, Bamforth, J Steven, Doonanco, Kurston, Adès, Lesley, Ma, Alan, Field, Michael, Johnson, Diana, Shackley, Fiona, Firth, Helen, Woods, C Geoffrey, Nürnberg, Peter, Gatti, Richard A, Hurles, Matthew, Bober, Michael B, Wollnik, Bernd, Jackson, Andrew P
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Wiley Periodicals, Inc 2014
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3995017/
https://ncbi.nlm.nih.gov/pubmed/24123394
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22461
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!

Benzer Materyaller