SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumours

Human Mutation

Volumn 32, Issue 12, 2011, Pages 1376-1380

  Alatzoglou, Kyriaki S ^a   Andoniadou, Cynthia L ^a   Kelberman, Daniel ^a   Buchanan, Charles R ^b   Crolla, John ^c   Arriazu, Maria Cristina ^d   Roubicek, Martin ^d   Moncet, Daniel ^d   Martinez Barbera, Juan P ^a   Dattani, Mehul T ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b KING'S COLLEGE HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^c SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^d HOSPITAL PRIVADO DE COMUNIDAD   (Argentina)

Author keywords

catenin; Pituitary; SOX2; Tumors

Indexed keywords

BETA CATENIN; DNA; FOLLITROPIN; GONADORELIN; GONADOTROPIN; HYDROCORTISONE; LUTEINIZING HORMONE; RECOMBINANT HORMONE; TESTOSTERONE; TRANSCRIPTION FACTOR SOX2; WNT PROTEIN;

ADULT; ANOPHTHALMIA; ARTICLE; BIRTH WEIGHT; CASE REPORT; CHROMOSOME 3Q; CHROMOSOME DELETION; CONSANGUINITY; DELAYED PUBERTY; DNA DETERMINATION; FEMALE; FOLLITROPIN BLOOD LEVEL; FOLLOW UP; GENE DELETION; GONADOTROPIN BLOOD LEVEL; HAPLOINSUFFICIENCY; HETEROZYGOSITY; HORMONE RESPONSE; HORMONE SUBSTITUTION; HUMAN; HYDROCORTISONE BLOOD LEVEL; HYPOGONADOTROPIC HYPOGONADISM; HYPOPHYSIS TUMOR; HYPOPLASIA; IN VITRO STUDY; INFANT; LANGUAGE DISABILITY; LOSS OF FUNCTION MUTATION; LUTEINIZING HORMONE BLOOD LEVEL; MALE; MICROPENIS; MOTOR DYSFUNCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEIN LOCALIZATION; PROTEIN PROTEIN INTERACTION; SCROTUM DISORDER; SIGNAL TRANSDUCTION; TESTIS; TUMOR GROWTH;

ADOLESCENT; BETA CATENIN; FEMALE; GENE DELETION; HAPLOINSUFFICIENCY; HEK293 CELLS; HETEROZYGOTE; HUMANS; HYPOPITUITARISM; HYPOTHALAMIC NEOPLASMS; INFANT; MALE; MUTATION; PITUITARY GLAND; SOXB1 TRANSCRIPTION FACTORS; WNT SIGNALING PATHWAY;

EID: 81355160353     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21606     Document Type: Article

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