% IMPORTANT: The following is UTF-8 encoded.  This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.

@ARTICLE{Stehr:272507,
      author       = {Stehr, Antonia M and Koeglsperger, Thomas and Jacob,
                      Maureen and Rhodio, Valerio and Winkelmann, Juliane and
                      Hopfner, Franziska and Zech, Michael},
      title        = {{T}remor-{D}ominant {M}ovement {D}isorder in {ANKRD}11-
                      {A}ssociated {KBG} {S}yndrome.},
      journal      = {Tremor and other hyperkinetic movements},
      volume       = {14},
      number       = {1},
      issn         = {2160-8288},
      address      = {New York, NY},
      publisher    = {Center for Digital Research and Scholarship},
      reportid     = {DZNE-2024-01183},
      pages        = {48},
      year         = {2024},
      abstract     = {KBG syndrome is a monogenic disorder caused by heterozygous
                      pathogenic variants in ANKRD11. A recent single-case study
                      suggested that the clinical spectrum of KBG syndrome,
                      classically defined by distinctive craniofacial traits and
                      developmental delay, may include movement disorders.We
                      report a 24-year-old patient harboring a pathogenic de novo
                      ANKRD11 frameshift variant. The phenotype was dominated by a
                      progressive tremor-dominant movement disorder, characterized
                      by rest, intention and postural tremor of the hands, voice
                      tremor, head and tongue tremor, increased muscle tone and
                      signs of ataxia. Additionally, the patient had a history of
                      mild developmental delay and epilepsy.Adding to the recently
                      described individual, our present patient highlights the
                      relevance of movement disorders as a clinically relevant
                      manifestation of KBG syndrome. ANKRD11 pathogenic variants
                      should be considered in the differential diagnosis of
                      combined tremor syndromes.},
      keywords     = {Humans / Tremor: genetics / Tremor: physiopathology / Young
                      Adult / Repressor Proteins: genetics / Male / Intellectual
                      Disability: genetics / Intellectual Disability:
                      physiopathology / Facies / Frameshift Mutation /
                      Microcephaly: genetics / Microcephaly: complications /
                      Microcephaly: physiopathology / Tooth Abnormalities:
                      genetics / Tooth Abnormalities: physiopathology / Bone
                      Diseases, Developmental: genetics / Bone Diseases,
                      Developmental: physiopathology / Bone Diseases,
                      Developmental: complications / Bone Diseases, Developmental:
                      diagnosis / Female / Abnormalities, Multiple / ANKRD11
                      (Other) / KBG syndrome (Other) / combined tremor syndrome
                      (Other) / tremor (Other) / ANKRD11 protein, human (NLM
                      Chemicals) / Repressor Proteins (NLM Chemicals)},
      cin          = {AG Höglinger / Clinical Research (Munich)},
      ddc          = {610},
      cid          = {I:(DE-2719)1110002 / I:(DE-2719)1111015},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:39346806},
      pmc          = {pmc:PMC11428658},
      doi          = {10.5334/tohm.926},
      url          = {https://pub.dzne.de/record/272507},
}