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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Detaylı Bibliyografya
Yayımlandı:AACE Clin Case Rep
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: American Association of Clinical Endocrinologists 2020
Konular:
Case Reports
Online Erişim: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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