Associated Papers
SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes.
Smits DJ et al.
Brain : a Journal of Neurology, 2023
36732302 (PubMed )
Supplement: awad033_supplementary_data.zip › brain-2022-01728-File010.xlsx › Sheet2
Case Report: Novel Biallelic Null Variants of SMPD4 Confirm Its Involvement in Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, and Structural Brain Anomalies.
Ji W et al.
Frontiers in Genetics, 2022
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Magini P et al.
American Journal of Human Genetics, 2019
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