Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects

American Journal of Medical Genetics, Part A

Volumn 164, Issue 8, 2014, Pages 1947-1952

  Bauters, Marijke ^a,b   Frints, Suzanna G ^c,d   Van Esch, Hilde ^e   Spruijt, Liesbeth ^c,f   Baldewijns, Marcella M ^c,d   Die Smulders, Christine E M de ^c,d   Fryns, Jean Pierre ^e   Marynen, Peter ^a,b   Froyen, Guy ^a,b  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^c MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^d MAASTRICHT UNIVERSITY   (Netherlands)

^e UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Gene overexpression; Growth hormone deficiency; Neural tube defect; SOX3 duplication; X linked hypopituitarism

Indexed keywords

FOLLITROPIN; GONADORELIN DERIVATIVE; GONADOTROPIN; GROWTH HORMONE; LEVOTHYROXINE; LUTEINIZING HORMONE; MESSENGER RNA; RECOMBINANT GROWTH HORMONE; THYROID HORMONE; THYROXINE; TRANSCRIPTION FACTOR SOX3; MICROSATELLITE DNA; SOX3 PROTEIN, HUMAN; TRANSCRIPTION FACTOR SOX;

ADOLESCENT; ADULT; ARTICLE; ATP11C GENE; BODY HEIGHT; BONE AGE; CASE REPORT; CHILD; COMPARATIVE GENOMIC HYBRIDIZATION; CRYPTORCHISM; DNA MICROARRAY; FEMALE; FETUS; GENE; GENE DOSAGE; GENE EXPRESSION; GENE MAPPING; GENETIC ANALYSIS; GENETIC GAIN; GROWTH DISORDER; HORMONAL THERAPY; HORMONE BLOOD LEVEL; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOPITUITARISM; INTELLECTUAL IMPAIRMENT; MALE; NEURAL TUBE DEFECT; ORCHIDOPEXY; PEDIGREE ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; RISK FACTOR; SCHOOL CHILD; SEGREGATION ANALYSIS; SOX3 GENE; TANDEM REPEAT; TREATMENT RESPONSE; X CHROMOSOME LINKED DISORDER; X LINKED HYPOPITUITARISM; CHROMOSOME DUPLICATION; CHROMOSOME MAP; CHROMOSOME SEGREGATION; GENETICS; GENOTYPE; PEDIGREE; X CHROMOSOMAL INHERITANCE; X CHROMOSOME; YOUNG ADULT;

ADOLESCENT; ADULT; CHROMOSOME DUPLICATION; CHROMOSOME MAPPING; CHROMOSOME SEGREGATION; CHROMOSOMES, HUMAN, X; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENE DOSAGE; GENES, X-LINKED; GENOTYPE; HUMANS; HYPOPITUITARISM; MALE; MICROSATELLITE REPEATS; NEURAL TUBE DEFECTS; PEDIGREE; RISK FACTORS; RNA, MESSENGER; SOXB1 TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 84904440189     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36580     Document Type: Article

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