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Dieter Kotzot

Innsbruck Medical University
University of Zurich

92

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FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varon syndrome.

2020 Parkinsonism & Related Disorders
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HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals

2019 American Journal of Medical Genetics Part A
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A further case of familial ring chromosome 20 mosaicism - molecular characterization of the ring and review of the literature

2018 European Journal of Medical Genetics
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Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease

2017 American Journal of Human Genetics
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Novel deletion in 11p15.5 imprinting center region 1 in a patient with Beckwith-Wiedemann syndrome provides insight into distal enhancer regulation and tumorigenesis.

2017 Pediatric Blood & Cancer
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Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder – an alternative therapeutic approach

2016 Scientific Reports
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Iron Supplementation Associated With Loss of Phenotype in Autosomal Dominant Hypophosphatemic Rickets

2015 The Journal of Clinical Endocrinology and Metabolism
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Clinical, cytogenetic, and molecular findings in a patient with a 46,XX,del(18)(q22)/46,XX,idic(18)(q22) karyotype.

2015 European Journal of Medical Genetics
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Chromosomal rearrangements in patients with clinical features of Silver-Russell syndrome.

2014 American Journal of Medical Genetics Part A
- Siv Fokstuen
- Dieter Kotzot
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Don't miss patients with atypical FMR1 mutations: dysmorphism and clinical features in a boy with a partially methylated FMR1 full mutation.

2014 European Journal of Pediatrics
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