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A Patient with Berardinelli-Seip Syndrome, Novel Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy.
J Clin Res Pediatr Endocrinol
September 2019
Institute of Mother and Child, Department of Medical Genetics, Warsaw, Poland
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 peripheral neuropathy and learning disabilities in early adolescence. Whole exome sequencing (WES) of the patient genome identified a novel variant, homozygous for a 52 bp intronic deletion in the locus, coding for 1-acylglycerol-3-phosphate O-acyltransferase 2, which is uniquely associated with CGL1 seipinopathies, with no molecular evidence for dual diagnosis.
View Article and Find Full Text PDFTalon cusps, macrodontia, and aberrant tooth morphology in Berardinelli-Seip syndrome.
Oral Surg Oral Med Oral Pathol Oral Radiol Endod
January 2008
Department of Pediatric and Preventive Dentistry, P.M.N.M. Dental College and Hospital, Karnataka, India.
Berardinelli-Seip syndrome is a congenital form of generalized lipodystrophy, transmitted as an autosomal recessive trait. It is well documented in medicine and skin. It is a rare disorder caused by mutations of AGPAT2 gene or BSCL2 gene.
View Article and Find Full Text PDF[Seip Berardinelli: the effect of the partial tongue resection].
Rev Stomatol Chir Maxillofac
September 2003
Service de Chirurgie Maxillo-Faciale et Chirurgie Plastique, Hôpital Générale, CHU de Dijon, 21000 Dijon.
The Seip Berardinelli or undiagnosed endocrine metabolic syndrome is a rare autosomal recessive pathology mainly described in families of Portuguese origins. This syndrome presents various metabolic disturbances responsible of various dysmorphies. We report the case of two brothers seen during their childhood for respiratory, speaking and feeding problems related to a class 3 of Angle and macroglossia.
View Article and Find Full Text PDFSeip-Berardinelli lipodystrophy: Report of three cases and their endocrine functions.
Ann Saudi Med
September 1995
Departments of Pediatrics and Clinical Pathology, University of Alexandria, Alexandria, Egypt, and Royal Hospital, Muscat, Oman.
Patients with lipodystrophic diabetes mellitus of the Seip-Berardinelli type, express normal insulin receptors.
Diabetologia
February 1993
Department of Medical Biochemistry, Sylvius Laboratories, State University, Leiden, The Netherlands.
Lipodystrophic diabetes mellitus of the Seip-Berardinelli type is a syndrome associated with insulin resistance and recessive inheritance. We have examined whether mutations in the insulin receptor are pathogenetic factors in this syndrome. Fibroblasts from three different patients with Seip-Berardinelli's lipodystrophy were tested for insulin binding, and insulin-stimulated receptor autophosphorylation.
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