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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机构:
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
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:
Univ Texas Med Sch Houston, Dept Pediat, Div Med Genet, MSB 3-144B, Houston, TX 77030 USAUniv Texas Med Sch Houston, Dept Pediat, Div Med Genet, MSB 3-144B, Houston, TX 77030 USA
Northrup, Hope
Krueger, Darcy A.
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Univ Cincinnati, Coll Med, Cincinnati Childrens Hosp Med Ctr, Div Neurol,Dept Pediat, Cincinnati, OH USAUniv Texas Med Sch Houston, Dept Pediat, Div Med Genet, MSB 3-144B, Houston, TX 77030 USA
Krueger, Darcy A.
Northrup, Hope
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Univ Texas Med Sch Houston, Dept Pediat, Div Med Genet, MSB 3-144B, Houston, TX 77030 USAUniv Texas Med Sch Houston, Dept Pediat, Div Med Genet, MSB 3-144B, Houston, TX 77030 USA
Northrup, Hope
Krueger, Darcy A.
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Univ Cincinnati, Coll Med, Cincinnati Childrens Hosp Med Ctr, Div Neurol,Dept Pediat, Cincinnati, OH USAUniv Texas Med Sch Houston, Dept Pediat, Div Med Genet, MSB 3-144B, Houston, TX 77030 USA
Krueger, Darcy A.
Roberds, Steven
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Roberds, Steven
Smith, Katie
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Smith, Katie
Sampson, Julian
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Sampson, Julian
Korf, Bruce
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Korf, Bruce
Kwiatkowski, David J.
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Kwiatkowski, David J.
Mowat, David
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Mowat, David
Nellist, Mark
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Nellist, Mark
Northrup, Hope
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Univ Texas Med Sch Houston, Dept Pediat, Div Med Genet, MSB 3-144B, Houston, TX 77030 USAUniv Texas Med Sch Houston, Dept Pediat, Div Med Genet, MSB 3-144B, Houston, TX 77030 USA
Northrup, Hope
Povey, Sue
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Povey, Sue
de Vries, Petrus
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de Vries, Petrus
Byars, Anna
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Byars, Anna
Dunn, David
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Dunn, David
Ess, Kevin
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Ess, Kevin
Hook, Dena
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Hook, Dena
Jansen, Anna
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Jansen, Anna
King, Bryan
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King, Bryan
Sahin, Mustafa
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Sahin, Mustafa
Whittemore, Vicky
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Whittemore, Vicky
Thiele, Elizabeth
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Thiele, Elizabeth
Bebin, E. Martina
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Chugani, Harry T.
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Crino, Peter
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Curatolo, Paolo
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Holmes, Greg
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Nabbout, Rima
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O'Callaghan, Finbar
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Wheless, James
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Wu, Joyce
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Darling, Thomas N.
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Cowen, Edward W.
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Gosnell, Elizabeth
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Hebert, Adelaide
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Mlynarczyk, Greg
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Soltani, Keyomaurs
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Soltani, Keyomaurs
Teng, Joyce
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Wataya-Kaneda, Mari
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Witman, Patricia M.
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Budde, Klemens
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Budde, Klemens
Hulbert, John
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Guay-Woodford, Lisa
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Sampson, Julian
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Sauter, Matthias
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Zonneberg, Bernard
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Jozwiak, Sergiusz
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机构:
Ctr Hlth Protect, Social Hyg Serv, Dept Hlth, Hong Kong, Hong Kong, Peoples R ChinaCtr Hlth Protect, Social Hyg Serv, Dept Hlth, Hong Kong, Hong Kong, Peoples R China
Cheng, T. S.
HONG KONG JOURNAL OF DERMATOLOGY & VENEREOLOGY,
2012,
20
(02):
: 61
-
67
机构:
Tel Aviv Sourasky Med Ctr, Human Genet Inst, Tel Aviv, Israel
Tel Aviv Univ, Sackler Sch Med, Tel Aviv, IsraelTel Aviv Sourasky Med Ctr, Human Genet Inst, Tel Aviv, Israel
机构:
Childrens Hosp Los Angeles, Dept Pathol & Lab Med, Los Angeles, CA 90027 USAChildrens Hosp Los Angeles, Dept Pathol & Lab Med, Los Angeles, CA 90027 USA