Associated Papers
From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial disease.
Heath O et al.
Molecular Genetics and Metabolism, 2026
Genetic insights into the complexity of premature ovarian insufficiency.
Nie L et al.
Reproductive Biology and Endocrinology : Rb&e, 2024
A novel homozygous variant in ATL1 associated with early onset spastic paraplegia 3A: Further evidence for autosomal recessive inheritance.
Darouich S et al.
American Journal of Medical Genetics. Part A, 2024
Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic Insights.
Tucker EJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Mosaic IL6ST variant inducing constitutive GP130 cytokine receptor signaling as a cause of neonatal onset immunodeficiency with autoinflammation and dysmorphy.
Materna-Kiryluk A et al.
Human Molecular Genetics, 2021
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.
Pronicka E et al.
Journal of Inherited Metabolic Disease, 2017
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Bowling KM et al.
Genome Medicine, 2017
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
Pronicka E et al.
Journal of Translational Medicine, 2016
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.
Wortmann SB et al.
American Journal of Human Genetics, 2015
CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.
Saunders C et al.
American Journal of Human Genetics, 2015
CLPB Deficiency Associated Neonatal Cavitating Leukoencephalopathy: A Potential Pathomechanism Underlying Neurologic Disorder.
Darouich S et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0
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