Associated Papers
Facing the challenges to shorten the diagnostic odyssey: first Whole Genome Sequencing experience of a Colombian cohort with suspected rare diseases.
Velasco HM et al.
European Journal of Human Genetics : Ejhg, 2024
A Homozygous Missense Variant in HSD17B4 Identified in Two Different Families.
Özkan Kart P et al.
Molecular Syndromology, 2024
Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals.
Shiga N et al.
Human Genome Variation, 2022
36171209 (PubMed )
Supplement: 41439_2022_213_MOESM2_ESM.xlsx › Supplementary_Table_2
Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders.
Domínguez-Ruiz M et al.
Journal of Translational Medicine, 2019
An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.
Lerat J et al.
Human Mutation, 2016
Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency.
Amor DJ et al.
Neurology. Genetics, 2016
Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency.
Lieber DS et al.
Bmc Medical Genetics, 2014
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