Clinical and molecular characterization of a brazilian cohort of campomelic dysplasia patients, and identification of seven new sox9 mutations

HIGHLIGHTS

• who: SOX and collaborators from the Serviço Genética Médica, Hospital Clínicas Porto Alegre, Porto Alegre, RS, BrazilDepartamento Genética, Universidade Federal Rio Grande do Sul, Porto Alegre, RS, Brazil have published the article: Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations, in the Journal: (JOURNAL)
• what: The authors sought to characterize a large cohort of CD patients in Brazil at the clinical, radiological and molecular levels.

SUMMARY

Patients diagnosed with a CD variant known as acampomelic . . .

 



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