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Severe congenital Factor VII deficiency associated with the 13q deletion syndrome.

作者信息

Hewson Michael P, Carter John M

机构信息

Neonatal Unit, Department of Child Health, Wellington Hospital, Private Bag 7902, Wellington South 6015, New Zealand.

出版信息

Am J Hematol. 2002 Nov;71(3):232-3. doi: 10.1002/ajh.10237.

DOI:10.1002/ajh.10237
PMID:12410585
Abstract

The first reported case of clinically significant congenital Factor VII deficiency in association with the 13q deletion syndrome is presented. It illustrates the importance of knowledge of the specific genes involved in gross deletion syndromes and adds to the current clinical experience of this rare disease.

摘要

相似文献

1
Severe congenital Factor VII deficiency associated with the 13q deletion syndrome.
Am J Hematol. 2002 Nov;71(3):232-3. doi: 10.1002/ajh.10237.
2
Molecular determination of the breakpoints of a 161 556 bp deletion at chromosome 13q34 that presented as severe factor VII deficiency in a neonate.
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3
[Monosomy 13q syndrome].
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Congenital heart defect and mental retardation in a patient with a 13q33.1-34 deletion.患者存在 13q33.1-34 缺失，患有先天性心脏缺陷和智力障碍。
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Haemostatic management of surgery for imperforate anus in a patient with 13q deletion syndrome with combined deficiency of factors VII and X.
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Factor VII and factor X deficiency in a child with a chromosome 13q duplication and deletion.
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7
[Congenital factor VII deficiency (author's transl)].
An Esp Pediatr. 1980 Jul;13(7):611-8.
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Chromosome 13q deletion with Cornelia de Lange syndrome phenotype.
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9
[Clinical and blood coagulation studies in patients with congenital factor VII deficiency].先天性因子VII缺乏症患者的临床及血液凝固研究
Pol Tyg Lek. 1983 Aug 1;38(31):959-62.
10
Homozygous 2bp deletion in the human factor VII gene: a non-lethal mutation that is associated with a complete absence of circulating factor VII.人类凝血因子VII基因纯合性2碱基对缺失：一种与循环中凝血因子VII完全缺乏相关的非致死性突变。
Thromb Haemost. 2000 Oct;84(4):635-7.

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2
Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature.一名13号染色体长臂部分单体性和16号染色体短臂三体性患者的凝血因子VII缺乏与发育异常：病例报告及文献复习
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