Uruguay facio-cardio-musculo-skeletal syndrome: a novel X-linked recessive disorder.

Quadrelli, R; Vaglio, A; Reyno, S; Lemes, A; Salazar, D; Lachman, R S; Wilcox, W R

Quadrelli, R; Vaglio, A; Reyno, S; Lemes, A; Salazar, D; Lachman, R S; Wilcox, W R.

Affiliation

Quadrelli R; Instituto de Genética Médica, Hospital Italiano, Montevideo, Uruguay. rquadr2@adinet.com.uy

Am J Med Genet ; 95(3): 247-65, 2000 Nov 27.

Article in En | MEDLINE | ID: mdl-11102932

Subject(s)

Abnormalities, Multiple/diagnosis; Facial Bones/abnormalities; Musculoskeletal Abnormalities/pathology; Abnormalities, Multiple/genetics; Abnormalities, Multiple/pathology; Adult; Aged; Aged, 80 and over; Cardiomyopathies/genetics; Chromosome Aberrations; Chromosome Disorders; Family Health; Foot Deformities/diagnostic imaging; Foot Deformities/genetics; Foot Deformities/pathology; Genes, Recessive/genetics; Genetic Linkage; Hand Deformities/diagnostic imaging; Hand Deformities/genetics; Hand Deformities/pathology; Humans; Joints/abnormalities; Joints/pathology; Male; Middle Aged; Muscle Hypotonia; Musculoskeletal Abnormalities/diagnostic imaging; Musculoskeletal Abnormalities/genetics; Pedigree; Radiography; Syndrome; Uruguay; X Chromosome

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Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Facial Bones / Musculoskeletal Abnormalities Type of study: Diagnostic_studies Limits: Adult / Aged / Aged80 / Humans / Male / Middle aged Country/Region as subject: America do sul / Uruguay Language: En Journal: Am J Med Genet Year: 2000 Type: Article Affiliation country: Uruguay

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