Case report: aarskog-scott syndrome caused by fgd1 gene variation: a family study

HIGHLIGHTS

• who: August and colleagues from the ApconiX, United Kingdom Pamukkale University, Turkey have published the research: Case Report: Aarskog-scott syndrome caused by FGD1 gene variation: A family study, in the Journal: (JOURNAL) of 06/04/2022
• what: The authors aimed to present a unique occurrence of Aarskog-Scott syndrome in a Chinese family and analyze the relationship between genotype and phenotype of this disorder.
• how: The results showed that a FGD1 gene hemizygous variation was present in both cases which was derived from their mother and GRCh37/HG19 was used as the . . .
  

   

  

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