Article
Recurrent episodes of unexplained hypoelectrolytaemia of a rare cause in a young Saudi girl.
BMJ case reports - 22 Oct 2015
Al-Atawi Mohsen Suliaman, Al-Queflie Sulaiman Abdullah, Al-Sadoon Hamad Abdullah
Abstract excerpt
We report a case of a 36-month-old Saudi girl who presented with recurrent episodes of unexplained hypoelectrolytaemia. Her cystic fibrosis CFTR (Cystic Fibrosis Transmembrane conductance Regulator) full gene sequence confirmed that she was homozygous for D579G mutation.
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
