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000892509 1001_ $$0P:(DE-HGF)0$$aPetry-Schmelzer, Jan Niklas$$b0$$eCorresponding author
000892509 245__ $$aVPS13D : One Family, Same Mutations, Two Phenotypes
000892509 260__ $$aNew York, NY$$bWiley$$c2021
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000892509 520__ $$aHere, we report two siblings with compound heterozygous variants in VPS13D but a considerable divergent phenotype highlighting the difficulties of phenotype–genotype correlation in this rare disease.A 19-year-old patient presented to our outpatient department with a five-year history of progressive gait impairment. Motor and cognitive development during childhood was described as normal. The patient visited a regular school and was able to participate in physical education until the onset of symptoms. There were no known neurologic diseases in the Caucasian family, consisting of five sisters (II.1–3, II.5, and II.6), and the patient (II.4). However, one younger sister (II.6) of the patient suffered from developmental delay and intellectual disability without further physical impairment, and the oldest sister (II.1) living separate from the family was supposed to have “gait problems”.
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000892509 7001_ $$0P:(DE-HGF)0$$aKeller, Natalie$$b1
000892509 7001_ $$0P:(DE-HGF)0$$aKarakaya, Mert$$b2
000892509 7001_ $$0P:(DE-HGF)0$$aWirth, Brunhilde$$b3
000892509 7001_ $$0P:(DE-Juel1)131720$$aFink, Gereon R.$$b4
000892509 7001_ $$0P:(DE-HGF)0$$aWunderlich, Gilbert$$b5
000892509 773__ $$0PERI:(DE-600)2772809-2$$a10.1002/mdc3.13232$$gp. mdc3.13232$$n5$$p803-806$$tMovement disorders clinical practice$$v8$$x2330-1619$$y2021
000892509 8564_ $$uhttps://juser.fz-juelich.de/record/892509/files/mdc3.13232-1.pdf
000892509 8564_ $$uhttps://juser.fz-juelich.de/record/892509/files/Petry-Schmelzer_Movement%20Disord_One%20familiy%2C%20same...post%20print.pdf$$yPublished on 2021-04-27. Available in OpenAccess from 2022-04-27.
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