Associated Papers
Functional analysis of a novel intronic variant of MCPH1 with autosomal recessive primary microcephaly.
Luo S et al.
Heliyon, 2024
Prenatal Identification of a Novel Mutation in the MCPH1 Gene Associated with Autosomal Recessive Primary Microcephaly (MCPH) Using Next Generation Sequencing (NGS): A Case Report and Review of the Literature.
Papoulidis I et al.
Children (basel, Switzerland), 2022
The Central Domain of MCPH1 Controls Development of the Cerebral Cortex and Gonads in Mice.
Wang Y et al.
Cells, 2022
MCPH1: A Novel Case Report and a Review of the Literature.
Caraffi SG et al.
Genes, 2022
35456440 (PubMed )
Supplement: genes-13-00634-s001.zip › Table_S1-MCPH1_Case_Report_v_Literature.xlsx › Table_S1
The N-terminal BRCT domain determines MCPH1 function in brain development and fertility.
Liu X et al.
Cell Death & Disease, 2021
Primary Microcephaly with Novel Variant of MCPH1 Gene in Twins: Both Manifesting in Childhood at the Same Time with Hashimoto's Thyroiditis.
Pavone P et al.
Journal of Pediatric Genetics, 2020
Novel compound heterozygous mutations in MCPH1 gene causes primary microcephaly in Saudi family.
Naseer MI et al.
Neurosciences (riyadh, Saudi Arabia), 2018
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