A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis-Reference-Cited by-同舟云学术

A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis

Published:2011-05 Issue:3 Volume:54 Page:310-313
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Faguer Stanislas,De Sandre-Giovannoli Annachiara,Hemery Michèle,Lévy Nicolas,Lamant Laurence,Arveiler Benoît,Rooryck Caroline,Prouheze Cathie,Vigouroux Adeline,Chauveau Dominique,Calvas Patrick,Chassaing Nicolas

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference13 articles.

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3. Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy;Hegele;Am. J. Hum. Genet.,2006

4. Clinical features and metabolic and autoimmune derangements in acquired partial lipodystrophy: report of 35 cases and review of the literature;Misra;Medicine (Baltimore),2004

5. Cephalothoracic lipodystrophy with hypocomplementemic renal disease: discordance in identical twin sisters;Bier;J. Clin. Endocrinol. Metab.,1978

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1. A clinical case of Barraquer-Simons syndrome;Almanac of Clinical Medicine;2021-12-24

2. Barraquer–Simons Lipodystrophy Syndrome in an Otherwise Normal Child: A Rare Case of Acquired Partial Lipodystrophy;Indian Journal of Paediatric Dermatology;2021

3. A 10.43 Mb duplication of chromosome region 5q31.2-q32 associated with a general delay in psychomotor development;Meta Gene;2017-02

4. Barraquer–Simons syndrome: a rare form of acquired lipodystrophy;BMC Research Notes;2016-03-18

5. Barraquer-Simons syndrome: A rare clinical entity;American Journal of Medical Genetics Part A;2014-05-01