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Showing 1 to 2 of 2 for “"Wolf-Hirschhorn syndrome"”.

  1. Single nucleotide polymorphism array analysis in copy number variant detection: assessment of its feasibility in the diagnostic setting

    Ruppelt, TheresaDivision of Human Genetics2016

    … which included dysmorphism, ID/DD, suspected syndromes, and family history. Data analysis was performed using the Affymetrix Chromosome Analysis Suite (ChAS) (Affymetrix, Santa Clara, CA, USA software). Seven of the patients demonstrated pathogenic CNVs. Diagnoses included Kleefstra syndrome, …

    cape-town Repository record

  2. Structural And Mechanistic Elucidation Of The EF-hand In LETM1 Ca2+/H+ Antiporter Function

    Lin, Qi-TongThe University of Western Ontario2024

    … gene where haploinsufficiency is associated with Wolf-Hirschhorn syndrome (WHS), characterized by microcephaly, growth retardation, and epileptic seizures. LETM1 contains a conserved Ca2+ binding EF-hand motif (EF1). Deletion of EF1 abrogates LETM1 mediated Ca2+ flux, but the precise mechanism by …

    uwo Repository record