Unusual presentation in wagr syndrome: expanding the phenotypic and genotypic spectrum of the diseases

HIGHLIGHTS

• who: Qiwei Wang and colleagues from the State Key Laboratory of Ophthalmology, Guangdong Provincial Key Laboratory of Ophthalmology and Centre, Sun Yat-sen University, Guangzhou, China have published the research work: Unusual Presentation in WAGR Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Diseases, in the Journal: Genes 2022, 1431 of /2022/
• what: The authors expand the genotypic and phenotypic spectrum of by reporting on six patients from six unrelated families with different de novo deletions located on chromosome 11p13.
• future: Functional studies are necessary to confirm the associations and unravel the . . .
  

   

  

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