UNUSUAL PRESENTATIONS OF LMNA-ASSOCIATED LIPODYSTROPHY WITH COMPLEX PHENOTYPES AND GENERALIZED FAT LOSS: WHEN THE GENETIC DIAGNOSIS UNCOVERS NOVEL FEATURES

OBJECTIVE: Lipodystrophy represents a group of rare diseases characterized by loss of body fat. While patients with generalized lipodystrophy exhibit near-total lack of fat, partial lipodystrophy is associated with selective fat loss affecting certain parts of the body. Although classical familial p...

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מידע ביבליוגרפי
הוצא לאור ב:AACE Clin Case Rep
Main Authors: de Andrade, Natalia Xavier S., Adiyaman, Suleyman Cem, Yuksel, Berna Demir, Ferrari, Carla T., Eldin, Abdelwahab Jalal, Saydam, Basak Ozgen, Altay, Canan, Sharma, Pratima, Bhave, Nicole, Little, Ann, McKeever, Paul, Onay, Huseyin, Ozkal, Sermin, Secil, Mustafa, Yenerel, Mustafa Nuri, Akinci, Baris, Oral, Elif A.
פורמט: Artigo
שפה:Inglês
יצא לאור: American Association of Clinical Endocrinologists 2020
נושאים:
Case Reports
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC7282159/
https://ncbi.nlm.nih.gov/pubmed/32524016
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4158/ACCR-2019-0366
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