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

American Journal of Medical Genetics, Part A

Volumn 161, Issue 9, 2013, Pages 2216-2225

  Schinzel, Albert ^a   Riegel, Mariluce ^b,c   Baumer, Alessandra ^a   Superti Furga, Andrea ^a,d   Moreira, Lilia M A ^e   Santo, Layla D E ^e   Schiper, Patricia P ^f   Carvalho, José Henrique Dantas ^g   Giedion, Andres ^a  

^a UNIVERSITY OF ZURICH   (Switzerland)

^b FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^c HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^d UNIVERSITY OF LAUSANNE   (Switzerland)

^e FEDERAL UNIVERSITY OF BAHIA   (Brazil)

^f School of Medicine and Public Health of the State of Bahia   (Brazil)

^g Associacao de Pais e Amigos dos Excepcionais de Sao Paulo   (Brazil)

Author keywords

ACGH; Contiguous gene syndrome; FISH; Follow up study; Langer Giedion syndrome; Microdeletion 8q24; Microdeletion syndrome

Indexed keywords

AGED; ALOPECIA; ARTICLE; BONE RADIOGRAPHY; CASE REPORT; CHILD; CHONDRODYSPLASIA; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL FEATURE; DISEASE ACTIVITY; DISEASE ASSOCIATION; EXOSTOSIN 1 GENE; FOLLOW UP; GENE; GENE FUNCTION; GENE IDENTIFICATION; GROWTH HORMONE DEFICIENCY; GYNECOMASTIA; HEART RIGHT VENTRICLE HYPERTROPHY; HEREDITARY MULTIPLE EXOSTOSIS; HUMAN; HUMAN TISSUE; JOINT STIFFNESS; LONG TERM CARE; MALE; MEDICAL HISTORY; MICROCEPHALY; MOLECULAR PATHOLOGY; OSTEOMA; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SYSTOLIC HEART MURMUR; TRICHORHINOPHALANGEAL SYNDOME 1 GENE; TRICHORHINOPHALANGEAL SYNDOME 2 GENE;

ACGH; CONTIGUOUS GENE SYNDROME; FISH; FOLLOW-UP STUDY; LANGER-GIEDION SYNDROME; MICRODELETION 8Q24; MICRODELETION SYNDROME;

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; CHROMOSOME BANDING; CHROMOSOME MAPPING; COMPARATIVE GENOMIC HYBRIDIZATION; FACIES; FOLLOW-UP STUDIES; HUMANS; LANGER-GIEDION SYNDROME; MALE; MIDDLE AGED; PHENOTYPE; YOUNG ADULT;

EID: 84881669002     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36062     Document Type: Article

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