Associated Papers
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.
Ververi A et al.
Human Molecular Genetics, 2023
36067010 (PubMed )
Supplement: supplemental_table_2-shared_rare_variants_patients_6_and_7_ddac225.xlsx › HI-DEPDC5_commun_variants_
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.
Patil VA et al.
Clinical Endocrinology, 2022
36138264 (PubMed )
Supplement: supplement_1.xlsx › Sheet1
Next-generation sequencing refines the genetic architecture of Greek GnRH-deficient patients.
Stamou MI et al.
Endocrine Connections, 2019
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