Deletion of 8.5 Mb, including the FMR1 gene, in a male with the fragile X syndrome phenotype and overgrowth

American Journal of Medical Genetics

Volumn 83, Issue 4, 1999, Pages 302-307

  Parvari, Ruti ^a,c   Mumm, S ^b   Galil, A ^a   Manor, E ^a   Bar David, Y ^a   Carmi, R ^a  

^a BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

Author keywords

8.5 Mb deletion; FMR1; Fragile X; Overgrowth

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME XQ; CLINICAL FEATURE; DELETION MUTANT; DNA DETERMINATION; FRAGILE X SYNDROME; GENE DELETION; GENE LOCATION; GENE MAPPING; GIGANTISM; HUMAN; KARYOTYPING; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; VERTICAL TRANSMISSION;

CHILD, PRESCHOOL; CHROMOSOME DELETION; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GROWTH DISORDERS; HUMANS; MALE; NERVE TISSUE PROTEINS; PHENOTYPE; RNA-BINDING PROTEINS; X CHROMOSOME;

EID: 0033515680     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990402)83:4<302::AID-AJMG13>3.0.CO;2-P     Document Type: Article

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