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May 1, 2024HeliyonOpen Access

Functional analysis of a novel intronic variant of MCPH1 with autosomal recessive primary microcephaly

Shulin Luo Lingyan Ren Rongping Wang Jianxin Hu Wei Wei Yurong Feng Shengwen Huang

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Abstract

Autosomal Recurrent Primary Microscopic (MCPH, OMIM: 251200) is a neurodevelopmental disorder that is characterized by a noticeable decrease in brain size, particularly in the cerebral cortex, but with a normal brain structure and a non-progressive intellectual disability.

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Cite This Study

Luo et al. (2024) studied this question.

synapsesocial.com/papers/68e6c333b6db64358764229d https://doi.org/10.1016/j.heliyon.2024.e30285

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