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...

Full beskrivning

Sparad:
Bibliografiska uppgifter
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: Wiley Periodicals, Inc 2014
Ämnen:
Research Article
Länkar: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
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk