Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Partial pancreatic agenesis"'
Publikováno v:
AACE Clin Case Rep
AACE Clinical Case Reports, Vol 6, Iss 3, Pp e123-e126 (2020)
AACE Clinical Case Reports, Vol 6, Iss 3, Pp e123-e126 (2020)
Objective: To report a case of diabetes mellitus (DM) associated with partial pancreatic agenesis and congenital heart disease (CHD) in a patient found to have a nonsense mutation of the GATA6 gene. Methods: We present the imaging, laboratory, and ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e91adf5634224405ff46a4967e82e4aa
https://europepmc.org/articles/PMC7282284/
https://europepmc.org/articles/PMC7282284/
Autor:
Nicholas Ng, Conor Woods, Kevin Colclough, Begona Sanchez-Lechuga, Muhammad Saqlain, Maria M. Byrne
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
Background Mutations in GATA6 are the most frequent cause of pancreatic agenesis. Most cases present with neonatal diabetes mellitus. Case presentation The case was a female born after an uncomplicated pregnancy and delivery in a non-consanguineous f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c695aa9d1cc124da98209c9a3d6d01dd
http://europepmc.org/articles/PMC7118888
http://europepmc.org/articles/PMC7118888
Publikováno v:
Nature reviews. Endocrinology. 8(3)
In neonatal diabetes mellitus resulting from mutations in EIF2AK3, PTF1A, HNF1B, PDX1 or RFX6, pancreatic aplasia or hypoplasia is typical. In maturity-onset diabetes mellitus of the young (MODY), mutations in HNF1B result in aplasia of pancreatic bo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e50fb57c9bc20e8588459771aaf32a0
https://pubmed.ncbi.nlm.nih.gov/22124438
https://pubmed.ncbi.nlm.nih.gov/22124438
Publikováno v:
Gastrointestinal endoscopy. 33(6)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d36b7831e278babf6b8af9c62a65b6cd
https://pubmed.ncbi.nlm.nih.gov/3443265
https://pubmed.ncbi.nlm.nih.gov/3443265