A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy

Primary polyneuropathy in the context of Seip-Berardinelli type 1 seipinopathy, or congenital generalized lipodystrophy type 1 (CGL1) has not been previously reported. We report the case history of a 27 year old female CGL1 patient presenting with an unusual additional development of non-diabetic pe...

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Vydáno v:J Clin Res Pediatr Endocrinol
Hlavní autoři: Oswiecimska, Joanna, Dawidziuk, Mateusz, Gambin, Tomasz, Ziora, Katarzyna, Marek, Marta, Rzonca, Sylwia, Guilbride, D. Lys, Jhangiani, Shalini N., Obuchowicz, Anna, Sikora, Alicja, Lupski, James R., Wiszniewski, Wojciech, Gawlinski, Pawel
Médium: Artigo
Jazyk:Inglês
Vydáno: Galenos Publishing 2019
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6745459/
https://ncbi.nlm.nih.gov/pubmed/30563316
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.galenos.2018.2018.0227
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