Clinical and molecular characterization of a patient with Langer-Giedion syndrome and mosaic del(8)(q22.3q24.13)

American Journal of Medical Genetics, Part A

Volumn 146, Issue 24, 2008, Pages 3211-3216

  Shanske, Alan L ^a,e   Patel, Ankita ^b   Saukam, Sou ^b   Levy, Brynn ^c   Lüdecke, Hermann Josef ^d  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c Department of Neurology and the Taub Institute for Research on Alzheimer's Disease and the Aging Brain   (United States)

^d UNIVERSITY HOSPITAL ESSEN   (Germany)

^e CHILDREN S HOSPITAL AT MONTEFIORE   (United States)

Author keywords

EXT1; FISH; GeneChip analysis; Langer Giedion syndrome; Mosaic interstitial deletion; Multiple exostoses; Tricho rhino phalangeal syndrome type II; TRPS1

Indexed keywords

ADOLESCENT; ARTICLE; BONE AGE; CASE REPORT; CHONDRODYSPLASIA; CHROMOSOME 8Q; CHROMOSOME DELETION; CHROMOSOME MOSAICISM; EPIPHYSIS; EXT1 GENE; FEMALE; GENE; GENE LOCUS; HEMIZYGOSITY; HEREDITARY MULTIPLE EXOSTOSIS; HUMAN; MENTAL DEFICIENCY; PHILTRUM; PRIORITY JOURNAL; SCANTY HAIR; SHORT STATURE; SKIN FIBROBLAST; TRICHORHINOPHALANGEAL SYNDROME 2; TRPS1 GENE;

ADOLESCENT; BONE AND BONES; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 8; FEMALE; HUMANS; LANGER-GIEDION SYNDROME; MOSAICISM;

EID: 57149084280     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32615     Document Type: Article

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