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这时候,医生们的怀疑愈加浓厚。根据临床经验,这是结节性硬化症的典型特征。该病症因TSC基因的突变而引起,通常表现为多个器官出现良性肿瘤,每个人的症状表现又各有不同。看似简单,背后却是复杂的家族遗传与基因突变。 当病史被进一步追溯后,医生们发现这名小患者有癫痫病史,并且学习能力较差,臀部和腰背部还有多个皮肤结节。这些细节是怎样构成了结节性硬化症的完整画像呢?
你是否曾经有过反复的腹痛,却又找不到原因?近日,一名11岁的男孩因持续的右下腹疼痛就医,最后却被确诊为结节性硬化症,这让不少家长感到震惊。那么,这种罕见病症究竟是什么,又有哪些症状值得我们关注呢?
A family from Weymouth are fighting to raise awareness for a rare genetic condition that causes their son to have around 15 drop seizures a day ...
May is Tuberculosis Sclerosis Awareness Month in Canada, and Cindy Ferris, a long-time advocate for the condition, joins ...
The mechanism involved in drug resistance in tuberous sclerosis complex is unknown. Recently, Lazarowski et al investigated the expression of the proteins MDR1 (multidrug resistance) and MRP1 ...
FORT LAUDERDALE, FL / ACCESS Newswire / April 21, 2025 / Sunshine Biopharma Inc. (NASDAQ:SBFM), a pharmaceutical company ...
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These skin findings, together with pulmonary lymphangioleiomyomatosis, pointed to the diagnosis of tuberous sclerosis complex (TSC). TSC is a genetic disorder characterized by the presence of ...
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