Further molecular and clinical delineation of the Wisconsin syndrome phenotype associated with interstitial 3q24q25 deletions

American Journal of Medical Genetics, Part A

Volumn 155, Issue 1, 2011, Pages 106-112

  Willemsen, Marjolein H ^a   De Leeuw, Nicole ^a   Mercer, Catherine ^b   Eisenhauer, Helen ^c   Morris, Joanne ^c   Collinson, Morag N ^c   Barber, John C K ^b,c   Lam, Stephen T S ^d   Lo, Ivan F M ^d   Rensen, Hanneke ^e   Ferwerda, Annemarie ^e   Hamel, Ben C J ^a   Kleefstra, Tjitske ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^c SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^d DEPARTMENT OF HEALTH   (China)

^e Pluryn   (Netherlands)

Author keywords

3q24q25 deletion; Coarse face; Hypogonadism; Intellectual disability; Wisconsin syndrome

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR FOXL2; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CHILD; CHROMOSOME; CHROMOSOME 24Q; CHROMOSOME 25; CHROMOSOME 3Q; CHROMOSOME ANALYSIS; CLINICAL FEATURE; COARSE FACE; CONTROLLED STUDY; FEMALE; GENETIC ASSOCIATION; HUMAN; HYPOGONADISM; INTELLECTUAL IMPAIRMENT; INTERSTITIAL CHROMOSOME DELETION; MALE; MALFORMATION SYNDROME; OSTEOPOROSIS; PHENOTYPE; PIGMENT DISORDER; PRESCHOOL CHILD; PRIORITY JOURNAL; WISCONSIN SYNDROME;

ADOLESCENT; BLEPHAROPHIMOSIS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 3; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; HUMANS; MALE; MENTAL RETARDATION; MIDDLE AGED; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SYNDROME;

EID: 78650657375     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33715     Document Type: Article

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