Letizia Camerota

Employment

• University of L'Aquila Resident in Medical Genetics
  2017 - Present

Education

Education history is unavailable.

Projects & Funding

Projects & funding information is unavailable.

Publications (6)

• Loss-of-function variants in myocardin cause congenital megabladder in humans and mice
  Arjan C. Houweling, Glenda M. Beaman, Alex Vincent Postma +22 more
  Journal of Clinical Investigation 2019 DOI: 10.1172/jci128545
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• Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data
  Genes 2019 DOI: 10.3390/genes10100764
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• Recessive mutations in the neuronal isoforms of DST , encoding dystonin, lead to abnormal actin cytoskeleton organization and HSAN type VI
  Human Mutation 2019 DOI: 10.1002/humu.23678
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• Keratoderma-Deafness-Mucocutaneous Syndrome Associated with Phe142Leu in the GJB2 Gene
  Acta Dermato Venereologica 2019 DOI: 10.2340/00015555-3291
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• Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome
  Undiagnosed Disease Network Italy, Francesco Brancati, Letizia Camerota +11 more
  European Journal of Human Genetics 2018 DOI: 10.1038/s41431-018-0183-6
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• A Small Supernumerary Marker Derived from the Pericentromeric Region of Chromosome 5: Case Report and Delineation of Partial Trisomy 5p Phenotype
  Cytogenetic and Genome Research 2017 DOI: 10.1159/000481331
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