Long-term follow-up of four patients with langer-giedion syndrome: Clinical course and complications

Author:

Schinzel Albert12,Riegel Mariluce34,Baumer Alessandra1,Superti-Furga Andrea25,Moreira Lilia M.A.6,Santo Layla D.E.7,Schiper Patricia P.8,Carvalho José Henrique Dantas9,Giedion Andres2

Affiliation:

1. Institute of Medical Genetics; University of Zürich; Zürich Switzerland

2. Department of Pediatrics; University of Zürich; Zürich Switzerland

3. UFRGS; Porto Alegre RS Brazil

4. Gene Therapy Center; Research Center, Hospital de Clinicas de Porto Alegre; RS Brazil

5. Department of Pediatrics; University of Lausanne; Lausanne Switzerland

6. Laboratory of Human Genetics and Mutagenesis, Genetics & Society Program; Institute of Biology, Federal University of Bahia (UFBA); Salvador Bahia Brazil

7. Laboratory of Human Genetics and Mutagenesis, Institute of Biology; Federal University of Bahia (UFBA); Salvador Bahia Brazil

8. Department of Health of the State of Bahia; State School of Public Health; Salvador de Bahia Bahia Brazil

9. Association of Parents and Friends of Exceptional Children (APAE); Salvador Bahia Brazil

Funder

RedeBRIM Project/CNPq/Brazil

Swiss National Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference40 articles.

1. Su di un caso di disostosi periferica associata con estosi osteogeniche multiple ed iposomia disuniforme e disarmonica;Alé;Ann Radiol Diagn,1951

2. The orthopaedic manifestations of the Langer-Giedion syndrome;Bauermeister;Orthop Rev,1992

3. The critical segment for the Langer-Giedion syndrome: 8q24. 11-q24.12;Bowen;Ann Genet,1985

4. A de novo complex t(7;13;8) translocation with a deletion in the TRPS gene region;Brandt;Hum Genet,1997

5. Chromosome deletion and multiple cartilaginous exostoses;Bühler;Eur J Pediatr,1980

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