Mosaicism for an FMR1 gene deletion in a fragile X female

American Journal of Medical Genetics

Volumn 136 A, Issue 2, 2005, Pages 214-217

  Fan, Hongxin ^a   Booker, Jessica K ^a   McCandless, Shawn E ^b   Shashi, Vandana ^c   Fleming, Alison ^a   Farber, Rosann A ^a,d  

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^b CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c WAKE FOREST SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF NORTH CAROLINA   (United States)

Author keywords

Deletion; FMR1 gene; Fragile X syndrome; Mosaicism; Repeat expansion disorder

Indexed keywords

ALLELE; ARTICLE; AUTISM; CASE REPORT; CHILD BEHAVIOR; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DNA METHYLATION; DNA SEQUENCE; FACIES; FEMALE; FMR1 GENE; FRAGILE X SYNDROME; GENE DELETION; GENE MAPPING; GENE MUTATION; HUMAN; LANGUAGE DISABILITY; MOSAICISM; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SOUTHERN BLOTTING; SPEECH DISORDER;

BASE SEQUENCE; BLOTTING, SOUTHERN; CHILD, PRESCHOOL; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GENE DELETION; HUMANS; MOLECULAR SEQUENCE DATA; MOSAICISM; NERVE TISSUE PROTEINS; RNA-BINDING PROTEINS;

EID: 22044457720     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30807     Document Type: Article

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