A new mutation in the <i>CAVIN1/PTRF</i> gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature.

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作者： Valentina,Mancioppi ^[1] ; Tommaso,Daffara ^[2] ; Martina,Romanisio ^[2] ; Giovanni,Ceccarini ^[3] ; Caterina,Pelosini ^[4] ; Ferruccio,Santini ^[3] ; Simonetta,Bellone ^[1] ; Simona,Mellone ^[5] ; Alessio,Baricich ^[6] ; Ivana,Rabbone ^[7] ; Gianluca,Aimaretti ^[1] ; Baris,Akinci ^[2] ; Mara,Giordano ^[8] ; Flavia,Prodam ^[6]

作者单位： Division of Pediatrics, Department of Health Sciences, University of Piemonte Orientale, Novara, Italy. ^[1] Endocrinology, Department of Translational Medicine, University of Piemonte Orientale, Novara, Italy. ^[2] Obesity and Lipodystrophy Center, Endocrinology Unit, University Hospital of Pisa, Pisa, Italy. ^[3] Chemistry and Endocrinology Laboratory, Department of Laboratory Medicine, University Hospital of Pisa, Pisa, Italy. ^[4] Interdisciplinary Research Center of Autoimmune and Allergic Diseases, University of Piemonte Orientale, Novara, Italy. ^[5] Laboratory of Genetics, Struttura Complessa a Direzione Universitaria (SCDU) Biochimica Clinica, Ospedale Maggiore della Carità, Novara, Italy. ^[6] Physical Medicine and Rehabilitation, Department of Health Sciences, University of Piemonte Orientale, Novara, Italy. ^[7] Division of Endocrinology and Metabolism, Faculty of Medicine, Dokuz Eylul University, Izmir, Türkiye. ^[8] Department of Health Sciences, University of Piemonte Orientale, Novara, Italy. ^[9]

关键词 CGL4 PTRF adipose tissue leptin lipodystrophy muscular dystrophy

主题词儿童, 学龄前(Child, Preschool);人类(Humans);脂质营养不良, 先天性全身性(Lipodystrophy, Congenital Generalized);同胞(Siblings);突变(Mutation);脂质营养不良(Lipodystrophy);肌疾病(Muscular Diseases)

DOI 10.3389/fendo.2023.1212729

PMID 37501786

发布时间 2023-07-31

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