Genetic and Phenotypic Heterogeneity in Patients with Mandibuloacral Dysplasia-Associated Lipodystrophy

Author:

Simha Vinaya1,Agarwal Anil K.1,Oral Elif Arioglu2,Fryns Jean-Pierre3,Garg Abhimanyu1

Affiliation:

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

2. Division of Endocrinology and Metabolism (E.A.O.), Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan 48109

3. Center for Human Genetics (J.-P.F.), University Hospital of Leuven, 3000–Leuven, Belgium

Publisher

The Endocrine Society

Subject

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

Reference25 articles.

1. New syndrome manifested by mandibular hypoplasia, acroosteolysis, stiff joints and cutaneous atrophy (mandibuloacral dysplasia) in two unrelated boys.;Young;Birth Defects Orig Artic Ser,1971

2. Insulin-resistant diabetes mellitus and hypermetabolism in mandibuloacral dysplasia: a newly recognized form of partial lipodystrophy.;Cutler;J Clin Endocrinol Metab,1991

3. Severe insulin resistance and diabetes mellitus in mandibuloacral dysplasia.;Freidenberg;Am J Dis Child,1992

4. Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia.;Simha;J Clin Endocrinol Metab,2002

5. Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21–22.;Peters;Nat Genet,1998

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