Newborn screening and cascade testing for FMR1 mutations

American Journal of Medical Genetics, Part A

Volumn 161, Issue 1, 2013, Pages 59-69

  Sorensen, Page L ^a,b   Gane, Louise W ^a,b   Yarborough, Mark ^a,b   Hagerman, Randi J ^a,b   Tassone, Flora ^a,c  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Cascade testing; FMR1 mutations; Genetic counseling; Newborn screening; Premutation

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN;

ALLELE; ARTICLE; CASE REPORT; CLINICAL EVALUATION; FAMILY HISTORY; FEMALE; FETUS; FMR1 GENE; FOLLOW UP; FRAGILE X SYNDROME; GENE MUTATION; GENETIC COUNSELING; GENETIC RISK; GENETIC SCREENING; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMAN; INFANT; MALE; MUTATIONAL ANALYSIS; NEWBORN; NEWBORN SCREENING; PEDIGREE ANALYSIS; PRIORITY JOURNAL; RISK ASSESSMENT; RISK BENEFIT ANALYSIS; TRINUCLEOTIDE REPEAT;

DNA MUTATIONAL ANALYSIS; FEMALE; FOLLOW-UP STUDIES; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GENETIC COUNSELING; GENETIC TESTING; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MUTATION; NEONATAL SCREENING; PEDIGREE; PILOT PROJECTS; RISK FACTORS;

EID: 84871680011     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35680     Document Type: Article

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