Pediatria Polska

Streszczenie

4/2025 vol. 100
Opis przypadku

15q13.2q13.3 microdeletion syndrome with congenital stationary night blindness due to compound deletion and a missense point mutation in TRPM1 gene

  1. Department of Medical Genetics, The Children’s Memorial Health Institute, Warszawa, Poland
  2. Department of Ophthalmology, Professor Jan Bogdanowicz Children’s Hospital, Warszawa, Poland
  3. Warsaw Genomics, Warszawa, Poland
ediatr Pol 2025; 100 (4): 394 -397
Data publikacji online: 2025/11/19
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