Case Report: A case of complex cortical dysplasia with central precocious puberty onset

A mutation rendering microtubulin and microtubule-associated proteins ineffective leads to a tubulinopathy known as complex cortical dysplasia (CCD), characterized by clinical heterogeneity and a variety of cortical brain developmental abnormalities. These often commence with intellectual disability...

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Hlavní autoři:	Chong Guo, Chunmei Chen, Xinrui Wang, Kaiwu Lin, Jingmin Guo, Pin Ge
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Frontiers Media S.A. 2025-08-01
Edice:	Frontiers in Pediatrics
Témata:	case report complex cortical dysplasia central precocious pubertybeta tubulinopathy TUBB2B
On-line přístup:	https://www.frontiersin.org/articles/10.3389/fped.2025.1634704/full
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