Associated Papers
A Splice Site Variant in SENP7 Results in a Severe Form of Arthrogryposis.
Kotecha U et al.
Clinical Genetics, 2025
Lethal Phenotype and Expansion of the Clinical Spectrum of Biallelic Loss of Function Variant in SENP7 Gene Unveiled by Whole Exome Sequencing.
Saad AK et al.
Clinical Genetics, 2025
Biallelic Loss of Function Variants in SENP7 Cause Immunodeficiency with Neurologic and Muscular Phenotypes.
Kobayashi ES et al.
The Journal of Pediatrics, 2024
Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia.
Samra N et al.
Journal of Medical Genetics, 2023
[NEXT-GENERATION SEQUENCING PERFORMED IN PATIENTS RAISING THE SUSPICION OF AN INBORN ERROR OF METABOLISM UNCOVERED A HOMOZYGOUS VARIANT IN YARS1 ALLOWING A NOVEL THERAPEUTIC TRIAL].
Nasser Samra N et al.
Harefuah, 2023
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