Functional Analysis of a Novel Intronic Variant of MCPH1 with Autosomal Recessive Primary Microcephaly

Author:

Luo Shulin,Ren Lingyan,Wang Rongpin,Hu Jianxin,Wei Wei,Feng Yurong,huang shengwen

Publisher

Elsevier BV

Reference11 articles.

1. MCPH1, beyond its role deciding the brain size;M Kristofova;Aging (Albany NY),2021

2. MCPH1: A Novel Case Report and a Review of the Literature;S G Caraffi;Genes (Basel),2022

3. Identification of Pathogenic Mutations in Primary Microcephaly-(MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families;N M Khan;Biomed Res Int,2022

4. Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings;C G Woods;Am J Hum Genet,2005

5. Primary Microcephaly with Novel Variant of MCPH1 Gene in Twins: Both Manifesting in Childhood at the Same Time with Hashimoto's Thyroiditis;P Pavone;J Pediatr Genet,2020

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