Deletions in Xq26.3-q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern

Human Genetics

Volumn 100, Issue 2, 1997, Pages 256-262

  Wolff, Daynna J ^a,b   Gustashaw, Karen M ^b   Zürcher, Vickie ^b   Ko, Lara ^b   White, Wendy ^b   Weiss, Lester ^c   Van Dyke, Daniel L ^c   Schwartz, Stuart ^b   Willard, Huntington F ^b  

^a Center for Human Genetics   (United States)

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

^c HENRY FORD HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN RECEPTOR; MICROSATELLITE DNA;

ARTICLE; CHROMOSOME BREAKAGE; CHROMOSOME DELETION X; CHROMOSOME XQ; CONTROLLED STUDY; CYTOGENETICS; DNA METHYLATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FRAGILE X SYNDROME; GROWTH RETARDATION; HUMAN; HUMAN CELL; HYPOTHYROIDISM; LEUKOCYTE; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; PHENOTYPE; PRIORITY JOURNAL; RECEPTOR GENE; SEIZURE; SEX DIFFERENCE; SKELETON MALFORMATION; TESTIS DISEASE; X CHROMOSOME INACTIVATION;

ADULT; CHILD; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOME MAPPING; DOSAGE COMPENSATION, GENETIC; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; NERVE TISSUE PROTEINS; PHENOTYPE; RNA-BINDING PROTEINS;

EID: 0030855340     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050501     Document Type: Article

References (24)

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