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Homozygous microdeletion in the 11p13 region in the patient with isolated form of aniridia: New challenges in the genetic diagnostics of aniridia.
Wawrocka, Anna; Walczak-Sztulpa, Joanna; Socha, Magdalena; Kuszel, Lukasz; Sowinska-Seidler, Anna; Budny, Bartlomiej; Bukowska-Olech, Ewelina; Pilas-Pomykalska, Magdalena; Jamsheer, Aleksander; Krawczynski, Maciej R.
Affiliation
  • Wawrocka A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
  • Walczak-Sztulpa J; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
  • Socha M; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
  • Kuszel L; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
  • Sowinska-Seidler A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
  • Budny B; Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, Poznan, Poland.
  • Bukowska-Olech E; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
  • Pilas-Pomykalska M; Department of Ophthalmology, Polish Mother's Memorial Hospital Research Institute, Lodz, Poland.
  • Jamsheer A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
  • Krawczynski MR; Centers for Medical Genetics GENESIS, Poznan, Poland.
Am J Med Genet A ; 188(2): 642-647, 2022 02.
Article in En | MEDLINE | ID: mdl-34773354
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Aniridia / Eye Proteins Type of study: Diagnostic_studies Limits: Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: Poland
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Aniridia / Eye Proteins Type of study: Diagnostic_studies Limits: Humans / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: Poland