Young-Simpson syndrome (YSS), a variant of del(1)(p36) syndrome?

American Journal of Medical Genetics, Part A

Volumn 146, Issue 12, 2008, Pages 1571-1574

  Robinson, Deanne Mraz ^a   Meagher, Cecilia C ^a   Orlowski, Craig C ^a   Lagoe, Erin Caine ^a   Fong, Chin To ^a,b  

^a UNIVERSITY OF ROCHESTER SCHOOL OF MEDICINE AND DENTISTRY   (United States)

^b UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

Author keywords

Blepharophimosis; Del(1)(p36); Dilated cardiomyopathy; Epicanthus inversus; Monosomy 1p36; Young Simpson syndrome

Indexed keywords

ARTICLE; BLEPHAROPHIMOSIS; CASE REPORT; CHROMOSOME ANALYSIS; CONGENITAL HYPOTHYROIDISM; CONGENITAL MALFORMATION; CONGESTIVE CARDIOMYOPATHY; EPICANTHUS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENETIC DISORDER; GENETIC VARIABILITY; GENOME; HUMAN; MONOSOMY; PRESCHOOL CHILD; PRIORITY JOURNAL; YOUNG SIMPSON SYNDROME;

ABNORMALITIES, MULTIPLE; CARDIOMYOPATHY, DILATED; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 1; CONGENITAL HYPOTHYROIDISM; DNA MUTATIONAL ANALYSIS; FAILURE TO THRIVE; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; SYNDROME;

EID: 44849139315     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32096     Document Type: Article

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