Enteroendocrine Dysfunction in Two Saudi Sisters
Proprotein convertase (PC) deficiency is a rare autosomal recessive disorder caused by mutations in proprotein convertase subtilisin/kexin type 1 (PCSK1). It is characterized by severe malabsorptive early-onset diarrhea, obesity, and systemic endocrinopathies. Only few cases have been reported in th...
| Main Authors: | , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Karger Publishers
2021-03-01
|
| Series: | Case Reports in Gastroenterology |
| Subjects: | |
| Online Access: | https://www.karger.com/Article/FullText/511761 |