Update on diagnostic methods in tuberous sclerosis complex
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作者:
Nunez, Eduardo
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Univ Nacl Autonoma Honduras, Fac Ciencias Med, Tegucigalpa, Municipio Distr, Honduras
Hosp Escuela Univ, Fdn Lucas Salud, Unidad Invest Cient, Tegucigalpa, Municipio Distr, HondurasUniv Nacl Autonoma Honduras, Fac Ciencias Med, Tegucigalpa, Municipio Distr, Honduras
Nunez, Eduardo
[1
,2
]
Bonilla, Yaniana
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Univ Nacl Autonoma Honduras, Fac Ciencias Med, Tegucigalpa, Municipio Distr, HondurasUniv Nacl Autonoma Honduras, Fac Ciencias Med, Tegucigalpa, Municipio Distr, Honduras
Bonilla, Yaniana
[1
]
Varela, Douglas
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Hosp Escuela Univ, Dept Neurol Pediat, Tegucigalpa, Municipio Distr, Honduras
Univ Nacl Autonoma Honduras, Fac Ciencias Med, Dept Fisiol Med, Tegucigalpa, Municipio Distr, HondurasUniv Nacl Autonoma Honduras, Fac Ciencias Med, Tegucigalpa, Municipio Distr, Honduras
Varela, Douglas
[3
,4
]
机构:
[1] Univ Nacl Autonoma Honduras, Fac Ciencias Med, Tegucigalpa, Municipio Distr, Honduras
[2] Hosp Escuela Univ, Fdn Lucas Salud, Unidad Invest Cient, Tegucigalpa, Municipio Distr, Honduras
[3] Hosp Escuela Univ, Dept Neurol Pediat, Tegucigalpa, Municipio Distr, Honduras
[4] Univ Nacl Autonoma Honduras, Fac Ciencias Med, Dept Fisiol Med, Tegucigalpa, Municipio Distr, Honduras
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REVISTA MEXICANA DE NEUROCIENCIA
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2016年
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17卷
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04期
Tuberous sclerosis complex (TSC) has been described as the disease most commonly transmitted by autosomal dominant inheritance. It represents a set of highly variable neurocutaneous manifestations often causing multiple organ failure. The most affected organs are: skin, brain, kidneys, lungs and heart. His clinical features are characterized by a triad consistent in demonstrations of mental retardation, epilepsy and sebaceous adenomas, being epilepsy the most common. However, the clinical manifestations vary between patients, and therefore, there exist consensus diagnostic clinical and radiological criteria for diagnosis. The accurate early diagnosis may possible improve survival and reduces morbidity and mortality of these patients.
机构:
Harvard Med Sch, Brigham & Womens Hosp, Div Pulm & Crit Care Med, Canc Genet Lab, Boston, MA 02115 USAHarvard Med Sch, Brigham & Womens Hosp, Div Pulm & Crit Care Med, Canc Genet Lab, Boston, MA 02115 USA
Klonowska, Katarzyna
Grevelink, Joannes M.
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Massachusetts Gen Hosp, Boston Dermatol & Laser Ctr, Boston, MA 02114 USAHarvard Med Sch, Brigham & Womens Hosp, Div Pulm & Crit Care Med, Canc Genet Lab, Boston, MA 02115 USA
Grevelink, Joannes M.
Giannikou, Krinio
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机构:Harvard Med Sch, Brigham & Womens Hosp, Div Pulm & Crit Care Med, Canc Genet Lab, Boston, MA 02115 USA
Giannikou, Krinio
Ogorek, Barbara A.
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Harvard Med Sch, Brigham & Womens Hosp, Div Pulm & Crit Care Med, Canc Genet Lab, Boston, MA 02115 USAHarvard Med Sch, Brigham & Womens Hosp, Div Pulm & Crit Care Med, Canc Genet Lab, Boston, MA 02115 USA
Ogorek, Barbara A.
Herbert, Zachary T.
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Dana Farber Canc Inst, Mol Biol Core Facil, Boston, MA 02115 USAHarvard Med Sch, Brigham & Womens Hosp, Div Pulm & Crit Care Med, Canc Genet Lab, Boston, MA 02115 USA
Herbert, Zachary T.
Thorner, Aaron R.
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Dana Farber Canc Inst, Ctr Canc Genom, Boston, MA 02115 USAHarvard Med Sch, Brigham & Womens Hosp, Div Pulm & Crit Care Med, Canc Genet Lab, Boston, MA 02115 USA
Thorner, Aaron R.
Darling, Thomas N.
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Uniformed Serv Univ Hlth Sci, Dept Dermatol, Bethesda, MD USAHarvard Med Sch, Brigham & Womens Hosp, Div Pulm & Crit Care Med, Canc Genet Lab, Boston, MA 02115 USA
Darling, Thomas N.
Moss, Joel
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NHLBI, Pulm Branch, NIH, Bldg 10, Bethesda, MD 20892 USAHarvard Med Sch, Brigham & Womens Hosp, Div Pulm & Crit Care Med, Canc Genet Lab, Boston, MA 02115 USA
Moss, Joel
Kwiatkowski, David J.
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Harvard Med Sch, Brigham & Womens Hosp, Div Pulm & Crit Care Med, Canc Genet Lab, Boston, MA 02115 USAHarvard Med Sch, Brigham & Womens Hosp, Div Pulm & Crit Care Med, Canc Genet Lab, Boston, MA 02115 USA
Kwiatkowski, David J.
JOURNAL OF CLINICAL INVESTIGATION,
2022,
132
(10):