Rett Syndrome without MECP2 Mutation in a Pakistani Girl

Rett syndrome is a rare inherited neurodegenerative disease which mostly affects females but has a lethal impact on males. Rett syndrome is mostly caused by mutations of Methyl CpG binding protein-2 (MECP2) gene located on chromosome Xq28. A 7-year girl from a consanguineous Pakistani family presen...

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Bibliografske podrobnosti

Principais autores:	Rubina Dad, Humaira Aziz Sawal, Arsalan Ahmad, Muhammad Ikram Ullah, Muhammad Jawad Hassan
Format:	Artigo
Jezik:	Inglês
Izdano:	National University of Medical Sciences 2020-04-01
Serija:	Life and Science
Teme:	mecp2, pakistan, rett syndrome, seizures.
Online dostop:	https://ojs.lifenscience.org/index.php/life-and-science/article/view/77
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