A rare frameshift mutation in the AGPAT2 gene in a family from gaza with congenital generalized lipodystrophy

Clin Endocrinol (Oxf). 2020 Aug;93(2):212-214. doi: 10.1111/cen.14223. Epub 2020 Jun 8.

Authors

Kobi Gorin¹, Mordechai Golomb², Shoshi Spitzen², Eran Leitersdorf², Daniel Schurr², Arin Haj-Yahia³, Ram Weiss⁴, Gil Leibowitz⁵, Ronen Durst²

Affiliations

¹ Internal Medicine Division, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
² Center for Prevention and Treatment of Atherosclerosis, Hadassah Hebrew University Medical Center, Jerusalem, Israel.
³ Clalit Health Services, Diabetes Clinic, Jerusalem, Israel.
⁴ Pediatric Division, Rambam Medical Center, Haifa, Israel.
⁵ The Diabetes Unit and the Endocrine Service, Hadassah Hebrew University Medical Center, Jerusalem, Israel.

PMID: 32412105
DOI: 10.1111/cen.14223

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Acyltransferases
Frameshift Mutation / genetics
Humans
Lipodystrophy*
Lipodystrophy, Congenital Generalized*
Mutation

Substances

Acyltransferases
2-acylglycerophosphate acyltransferase