Severe Variant of X-linked Dyskeratosis Congenita (Hoyeraal-Hreidarsson Syndrome) Causes Significant Enterocolitis in Early Infancy

被引:15
作者
Borggraefe, Ingo [1 ]
Koletzko, Sibylle
Arenz, Tina
Fuehrer, Monika
Hoffmann, Florian
Dokal, Inderjeet [2 ]
Vulliamy, Tom [2 ]
Weiler, Veronique [3 ]
Griese, Matthias
Belohradsky, Bernd H.
Lang, Thomas [4 ]
机构
[1] Univ Munich, Dept Pediat Neurol & Dev Med, Dr von Haunersches Childrens Hosp, D-80337 Munich, Germany
[2] Queen Mary Univ London, Ctr Paediat, Inst Cell & Mol Sci, Barts & London Sch Med & Dent, London, England
[3] Univ Munich, Dept Pathol, D-80337 Munich, Germany
[4] Childrens Hosp, Starnberg, Germany
关键词
CEREBELLAR HYPOPLASIA; PROGRESSIVE PANCYTOPENIA; COMBINED IMMUNODEFICIENCY; GROWTH FAILURE; TRANSPLANTATION; DKC1;
D O I
10.1097/MPG.0b013e3181a15b94
中图分类号
R57 [消化系及腹部疾病];
学科分类号
摘要
[No abstract available]
引用
收藏
页码:359 / 363
页数:5
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