Article
Extreme growth failure is a common presentation of ligase IV deficiency.
Human mutation - 1 Jan 2014
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
Abstract excerpt
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 from malignancy in developmentally normal individuals, to severe combined immunodeficiency and early mortality. Here,...
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