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000272507 1001_ $$00000-0001-9932-5187$$aStehr, Antonia M$$b0
000272507 245__ $$aTremor-Dominant Movement Disorder in ANKRD11- Associated KBG Syndrome.
000272507 260__ $$aNew York, NY$$bCenter for Digital Research and Scholarship$$c2024
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000272507 520__ $$aKBG 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.
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000272507 650_7 $$2Other$$aANKRD11
000272507 650_7 $$2Other$$aKBG syndrome
000272507 650_7 $$2Other$$acombined tremor syndrome
000272507 650_7 $$2Other$$atremor
000272507 650_7 $$2NLM Chemicals$$aANKRD11 protein, human
000272507 650_7 $$2NLM Chemicals$$aRepressor Proteins
000272507 650_2 $$2MeSH$$aHumans
000272507 650_2 $$2MeSH$$aTremor: genetics
000272507 650_2 $$2MeSH$$aTremor: physiopathology
000272507 650_2 $$2MeSH$$aYoung Adult
000272507 650_2 $$2MeSH$$aRepressor Proteins: genetics
000272507 650_2 $$2MeSH$$aMale
000272507 650_2 $$2MeSH$$aIntellectual Disability: genetics
000272507 650_2 $$2MeSH$$aIntellectual Disability: physiopathology
000272507 650_2 $$2MeSH$$aFacies
000272507 650_2 $$2MeSH$$aFrameshift Mutation
000272507 650_2 $$2MeSH$$aMicrocephaly: genetics
000272507 650_2 $$2MeSH$$aMicrocephaly: complications
000272507 650_2 $$2MeSH$$aMicrocephaly: physiopathology
000272507 650_2 $$2MeSH$$aTooth Abnormalities: genetics
000272507 650_2 $$2MeSH$$aTooth Abnormalities: physiopathology
000272507 650_2 $$2MeSH$$aBone Diseases, Developmental: genetics
000272507 650_2 $$2MeSH$$aBone Diseases, Developmental: physiopathology
000272507 650_2 $$2MeSH$$aBone Diseases, Developmental: complications
000272507 650_2 $$2MeSH$$aBone Diseases, Developmental: diagnosis
000272507 650_2 $$2MeSH$$aFemale
000272507 650_2 $$2MeSH$$aAbnormalities, Multiple
000272507 7001_ $$0P:(DE-2719)2810825$$aKoeglsperger, Thomas$$b1$$eFirst author
000272507 7001_ $$aJacob, Maureen$$b2
000272507 7001_ $$aRhodio, Valerio$$b3
000272507 7001_ $$00000-0002-3074-599X$$aWinkelmann, Juliane$$b4
000272507 7001_ $$00000-0001-6524-0281$$aHopfner, Franziska$$b5$$eLast author
000272507 7001_ $$00000-0001-8112-9153$$aZech, Michael$$b6
000272507 773__ $$0PERI:(DE-600)2674453-3$$a10.5334/tohm.926$$gVol. 14, no. 1, p. 48$$n1$$p48$$tTremor and other hyperkinetic movements$$v14$$x2160-8288$$y2024
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