PDGFRB公司
表型
医学
皮肤病科
颅面
病理
遗传学
生物
基因
作者
Bhawana Aggarwal,Alec Reginald Errol Correa,Neerja Gupta,Manisha Jana,Madhulika Kabra
摘要
Penttinen type of premature aging syndrome is an extremely rare progeroid disorder, caused by activating variants in the receptor tyrosine kinase domain of the PDGFRB gene. Only eight individuals have been previously reported worldwide, with a consistent phenotype of prematurely aged appearance, lipoatrophy, hypertrophic skin lesions, proptosis, malar hypoplasia, and marked acro-osteolysis. We report the first patient of Penttinen syndrome from India, with novel radiographic findings of terminal phalangeal tufting, thereby expanding the phenotypic spectrum of Penttinen syndrome.
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