Allelic overload and its clinical modifier effect in bardet-biedl syndrome

HIGHLIGHTS

• who: Irene Perea-Romero from the Published in partnership with CEGMR, King Abdulaziz University have published the paper: Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome, in the Journal: (JOURNAL)
• what: Subjects and phenotypic classification This research has been reviewed and approved by the Research Ethics Committee of the Fundaciu00f3n Jimu00e9nez Du00edaz University Hospital (FJD, Madrid, Spain) (approval number PIC172-20_FJD) and the Galician Ethical Committee for Clinical Research (Spain-no.

SUMMARY

Bardet-Biedl syndrome (BBS, MIM #209900) is a rare multisystemic disease that is caused by the . . .

 



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