Associated Papers
Clinical and Molecular Heterogeneity Underlying Monogenic Causes of Pediatric Diabetes Associated to Brain Developmental Disorders.
Di Pasquale G et al.
Clinical Genetics, 2025
SMPD4-mediated sphingolipid metabolism regulates brain and primary cilia development.
Inskeep KA et al.
Development (cambridge, England), 2024
SMPD4 mediated sphingolipid metabolism regulates brain and primary cilia development.
Inskeep KA et al.
Biorxiv : the Preprint Server for Biology, 2023
SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes.
Smits DJ et al.
Brain : a Journal of Neurology, 2023
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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