A novel mutation in SOX3 polyalanine tract: a case of kabuki syndrome with combined pituitary hormone deficiency harboring double mutations in MLL2 and SOX3

Pituitary

Volumn 17, Issue 6, 2014, Pages 569-574

  Takagi, Masaki ^a,b   Ishii, Tomohiro ^a   Torii, Chiharu ^a   Kosaki, Kenjiro ^a   Hasegawa, Tomonobu ^a  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

Author keywords

CPHD; PA tract; SOX3

Indexed keywords

ALANINE; TRANSCRIPTION FACTOR SOX3; DNA BINDING PROTEIN; MLL2 PROTEIN, HUMAN; SOX3 PROTEIN, HUMAN; TRANSCRIPTION FACTOR SOX; TUMOR PROTEIN;

ARTICLE; BASE PAIRING; CASE REPORT; CHILD; CLINICAL FEATURE; COMBINED PITUITARY HORMONE DEFICIENCY; DNA FLANKING REGION; EXON; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE SEQUENCE; GENETIC CODE; GENETIC SCREENING; HEMIZYGOTE; HESX1 GENE; HETEROZYGOTE; HORMONE DEFICIENCY; HUMAN; HYPOPITUITARISM; INTRON; JAPANESE (PEOPLE); KABUKI MAKEUP SYNDROME; MALE; MLL2 GENE; MOLECULAR DIAGNOSIS; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PROMOTER REGION; SOX3 GENE; TRANSACTIVATION; ANIMAL; CHLOROCEBUS AETHIOPS; CONGENITAL MALFORMATION; COS 1 CELL LINE; FACE; FEMALE; GENETICS; HEMATOLOGIC DISEASE; INFANT; MULTIPLE MALFORMATION SYNDROME; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; VESTIBULAR DISORDER; X CHROMOSOME INACTIVATION;

ABNORMALITIES, MULTIPLE; ANIMALS; CERCOPITHECUS AETHIOPS; CHILD; CHILD, PRESCHOOL; COS CELLS; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FACE; FEMALE; HEMATOLOGIC DISEASES; HUMANS; HYPOPITUITARISM; INFANT; MALE; MUTATION; NEOPLASM PROTEINS; PEDIGREE; SOXB1 TRANSCRIPTION FACTORS; VESTIBULAR DISEASES; X CHROMOSOME INACTIVATION;

EID: 84912040922     PISSN: 1386341X     EISSN: 15737403     Source Type: Journal    
DOI: 10.1007/s11102-013-0546-5     Document Type: Article

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