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Articles tagged with Microcephaly

  • Optimization of diagnostic yield

    The genetic knowledge around rare hereditary diseases is rapidly increasing. Patients having received a negative diagnostic report may thus gain from a re-analysis of their exomes or genomes. A recent CENTOGENE-initiated study provided impressive evidence for this hypothesis. In a set of patients…

  • The First Missense Pathogenic Variant in the KAT6A Gene

    CENTOGENE published results of another successful collaborative study in the highly ranked Journal of Human Genetics titled: “A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay.”

  • Cornelia de Lange Syndrome Panel

    Cornelia de Lange syndrome (CdLS) is a rare inherited multisystem developmental disorder characterized by distinctive craniofacial features, growth retardation with prenatal onset, intellectual disability, limb malformations, hirsutism, sensorineural hearing loss, myopia, nystagmus and…

  • Microcephaly

    Seckel syndrome is rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance. The major feature of Seckel syndrome is associated autosomal recessive primary microcephaly…

  • An Unusual Neurological Syndrome of Crawling Gait, Dystonia, Pyramidal Signs, and Limited Speech

    The purpose of the study was to identify and molecularly characterize a neurological syndrome in a consanguineous Pakistani family. An unusual neurological syndrome of crawling gait, predominant leg dystonia, pyramidal signs, microcephaly, and suspected deafness segregated in the family. We…