Screening of LHX2 in patients presenting growth retardation with posterior pituitary and ocular abnormalities

European Journal of Endocrinology

Volumn 167, Issue 1, 2012, Pages 85-91

  Pérez, Christelle ^a   Dastot Le Moal, Florence ^b   Collot, Nathalie ^b   Legendre, Marie ^a,b   Abadie, Isabelle ^c   Bertrand, Anne Marie ^d   Amselem, Serge ^a,b   Sobrier, Marie Laure ^a  

^a INSERM   (France)

^b ARMAND TROUSSEAU HOSPITAL   (France)

^c CENTRE HOSPITALIER INTERCOMMUNAL DE CRÉTEIL   (France)

^d UNIVERSITY HOSPITAL OF BESANÇON   (France)

Author keywords

[No Author keywords available]

Indexed keywords

PROLACTIN; THYROTROPIN BETA SUBUNIT; TRANSCRIPTION FACTOR PIT 1;

ADENOHYPOPHYSIS HYPOFUNCTION; ADULT; AGSU GENE; ARTICLE; BLINDNESS; CELL STRAIN HEK293; CHILD; COLOBOMA; CONTROLLED STUDY; EXON; EYE DISEASE; GENE; GROWTH RETARDATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; IN VITRO STUDY; INFANT; INTRON; LHX2 GENE; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NEUROHYPOPHYSIS DISEASE; OPTIC NERVE APLASIA; OPTIC NERVE DISEASE; OPTIC NERVE HYPOPLASIA; POU1F1 GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; PRL GENE; PROMOTER REGION; SCHOOL CHILD; SEPTOOPTIC DYSPLASIA; TRANSCRIPTION INITIATION; TSHB GENE;

ADULT; BLINDNESS; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC TESTING; GROWTH DISORDERS; HUMANS; INFANT; LIM-HOMEODOMAIN PROTEINS; MALE; MUTATION, MISSENSE; OPTIC NERVE; OPTIC NERVE DISEASES; PITUITARY GLAND, POSTERIOR; PROMOTER REGIONS, GENETIC; SEPTO-OPTIC DYSPLASIA; TRANSCRIPTION FACTORS;

EID: 84862734879     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-12-0026     Document Type: Article

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