Phenotypic Heterogeneity in Body Fat Distribution in Patients with Atypical Werner’s Syndrome Due to Heterozygous Arg133Leu Lamin A/C Mutation-Reference-Cited by-同舟云学术

Phenotypic Heterogeneity in Body Fat Distribution in Patients with Atypical Werner’s Syndrome Due to Heterozygous Arg133Leu Lamin A/C Mutation

Published:2005-12-01 Issue:12 Volume:90 Page:6699-6706
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Jacob Katherine N.¹,Baptista Fernando²,dos Santos Heloísa G.³,Oshima Junko⁴,Agarwal Anil K.¹,Garg Abhimanyu¹

Affiliation:

1. Division of Nutrition and Metabolic Diseases (K.N.J., A.K.A., A.G.), Department of Internal Medicine, and the Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, Texas 75390;

2. Endocrinology Unit (F.B.), Santa Maria Hospital, 1649-035 Lisbon, Portugal;

3. Medical Genetics Service (H.G.d.S.), 1649-035 Lisbon, Portugal;

4. Department of Pathology (J.O.), University of Washington, Seattle, Washington 98195

Publisher

The Endocrine Society

Subject

Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jcem/article-pdf/90/12/6699/10778126/jcem6699.pdf

Reference32 articles.

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3. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.;Eriksson;Nature,2003

4. LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).;Cao;J Hum Genet,2003

5. Werner’s syndrome a review of its symptomatology, natural history, pathologic features, genetics and relationship to the natural aging process.;Epstein;Medicine (Baltimore),1966

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