Meconium Ileus due to GUCY2C gene mutations in three unrelated South Indian families
Journal of Cystic Fibrosis(2021)
摘要
•Homozygous loss of function GUCY2C mutations are an important cause of non-cystic fibrosis meconium ileus.•Exome sequencing for GUCY2C gene variants should be performed in cases on non-cystic fibrosis meconium ileus.•GUCY2C cases of meconium ileus should have long term follow up to assess for the presence of long term or late complications.
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关键词
Cystic fibrosis,Gucy2c gene mutation,Meconium ileus
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