Third case of 8q23.3-q24.13 deletion in a patient with Langer-Giedion syndrome phenotype without TRPS1 gene deletion

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 3, 2012, Pages 659-663

  Pereza, Nina ^a   Severinski, Srećko ^b   Ostojić, Saša ^a   Volk, Marija ^c   Maver, Aleš ^c   Dekanić, Kristina Baraba ^b   Kapović, Miljenko ^a   Peterlin, Borut ^c  

^a UNIVERSITY OF RIJEKA   (Croatia)

^b KBC RIJEKA   (Croatia)

^c UNIVERSITY MEDICAL CENTRE LJUBLJANA   (Slovenia)

Author keywords

Dysmorphology; Microdeletion; Multiple hereditary exostoses; Precocious puberty

Indexed keywords

EXT1 PROTEIN; PROTEIN; TRP1 PROTEIN; UNCLASSIFIED DRUG;

ADRENARCHE; ARTICLE; BODY HEIGHT; CASE REPORT; CAUCASIAN; CHILD; CHONDRODYSPLASIA; CHROMOSOME Q BAND; COMPARATIVE GENOMIC HYBRIDIZATION; CRANIOFACIAL MALFORMATION; EXT1 GENE; FEMALE; GENE; GENE DELETION; HEMIZYGOSITY; HUMAN; INTERSTITIAL CHROMOSOME DELETION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PHENOTYPE; PRECOCIOUS PUBERTY; PRESCHOOL CHILD; PRIORITY JOURNAL; TRPS1 GENE;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 8; COMPARATIVE GENOMIC HYBRIDIZATION; DNA-BINDING PROTEINS; FEMALE; GENE DELETION; HUMANS; LANGER-GIEDION SYNDROME; PHENOTYPE; TRANSCRIPTION FACTORS;

EID: 84857117324     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35201     Document Type: Article

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