Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity.

Ahmad, Z; Phadke, S R; Arch, E; Glass, J; Agarwal, A K; Garg, A

Ahmad, Z; Phadke, S R; Arch, E; Glass, J; Agarwal, A K; Garg, A.

Affiliation

Ahmad Z; Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.

Clin Genet ; 81(2): 158-64, 2012 Feb.

Article in En | MEDLINE | ID: mdl-21108632

Subject(s)

Contracture/genetics; Genetic Heterogeneity; Homozygote; Membrane Proteins/genetics; Metalloendopeptidases/genetics; Mutation; Skin Abnormalities/genetics; Amino Acid Substitution; Base Sequence; Contracture/diagnosis; Exons; Fatal Outcome; Female; Humans; Infant, Newborn; Lamin Type A/genetics; Male; Pedigree; Phenotype; Promoter Regions, Genetic; Skin/pathology; Skin Abnormalities/diagnosis; Stillbirth/genetics

Fulltext

Add to My VHL

XML

PubMed Links

Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Skin Abnormalities / Metalloendopeptidases / Genetic Heterogeneity / Contracture / Homozygote / Membrane Proteins / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Male / Newborn Language: En Journal: Clin Genet Year: 2012 Document type: Article Affiliation country: United States Country of publication: Denmark

Fulltext

Add to My VHL

XML

PubMed Links

Search on Google