A novel FLCN mutation in family members diagnosed with primary spontaneous pneumothorax.

Burcu Genc Yavuz Guzel Tanoglu EsraSeda Salman YılmazŞahin Çolak

Published in: Molecular genetics & genomic medicine (2019)

We found that a heterozygous mutation in exon 11 of FLCN c. 1273C>T (p.Gln425Ter), which was identified for the first time in our study, might cause isolated familial spontaneous pneumothorax.

Keyphrases

early onset