共 131 条
Neurofibromatosis: chronological history and current issues
被引:13
作者:

Antonio, Joao Roberto
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h-index: 0
机构:
Fac Med Sao Jose do Rio Preto FAMERP, Sao Jose Do Rio Preto, SP, Brazil Fac Med Sao Jose do Rio Preto FAMERP, Sao Jose Do Rio Preto, SP, Brazil

Goloni-Bertollo, Eny Maria
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机构:
Fac Med Sao Jose do Rio Preto FAMERP, Sao Jose Do Rio Preto, SP, Brazil Fac Med Sao Jose do Rio Preto FAMERP, Sao Jose Do Rio Preto, SP, Brazil

Tridico, Livia Arroyo
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h-index: 0
机构:
Fac Med Sao Jose do Rio Preto FAMERP, Sao Jose Do Rio Preto, SP, Brazil Fac Med Sao Jose do Rio Preto FAMERP, Sao Jose Do Rio Preto, SP, Brazil
机构:
[1] Fac Med Sao Jose do Rio Preto FAMERP, Sao Jose Do Rio Preto, SP, Brazil
关键词:
Genes;
neurofibromatosis;
1;
Neurofibromatoses;
Neurofibromatosis;
NERVE SHEATH TUMORS;
BONE-MINERAL DENSITY;
VON RECKLINGHAUSEN NEUROFIBROMATOSIS;
GAP-RELATED DOMAIN;
TYPE-1;
GENE;
LISCH NODULES;
NF1;
CHILDREN;
MUTATIONS;
IDENTIFICATION;
D O I:
10.1590/abd1806-4841.20132125
中图分类号:
R75 [皮肤病学与性病学];
学科分类号:
100206 ;
摘要:
Neurofibromatosis, which was first described in 1882 by Von Recklinghausen, is a genetic disease characterized by a neuroectodermal abnormality and by clinical manifestations of systemic and progressive involvement which mainly affect the skin, nervous system, bones, eyes and possibly other organs. The disease may manifest in several ways and it can vary from individual to individual. Given the wealth of information about neurofibromatosis, we attempted to present this information in different ways. In the first part of this work, we present a chronological history, which describes the evolution of the disease since the early publications about the disorder until the conclusion of this work, focusing on relevant aspects which can be used by those wishing to investigate this disease. In the second part, we present an update on the various aspects that constitute this disease.
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页码:329 / 343
页数:15
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