Hesxl gene in midline cerebral defects [2]

Journal of Pediatrics

Volumn 139, Issue 5, 2001, Pages 754-

  Antonini, S R R ^a   Grecco Filho, A S ^a   Elias, L L K ^a   Moreira, A C ^a   De Castro, M ^a  

^a Department of Pediatrics ^*  (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN HESX1; UNCLASSIFIED DRUG; BASIC HELIX LOOP HELIX TRANSCRIPTION FACTOR; HES1 PROTEIN, HUMAN; HESX1 PROTEIN, HUMAN; HOMEODOMAIN PROTEIN;

BRAIN MALFORMATION; CELL DIFFERENTIATION; CENTRAL NERVOUS SYSTEM MALFORMATION; CLINICAL ARTICLE; CONTROLLED STUDY; DYSPLASIA; GENE DISRUPTION; GENE FUNCTION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HORMONE DEFICIENCY; HUMAN; HYPOPLASIA; LETTER; OPTIC NERVE; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN DOMAIN; REGULATOR GENE; TELENCEPHALON; GENETICS; NERVOUS SYSTEM MALFORMATION; POINT MUTATION; SEPTOOPTIC DYSPLASIA;

BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; HOMEODOMAIN PROTEINS; HUMANS; NERVOUS SYSTEM MALFORMATIONS; POINT MUTATION; SEPTO-OPTIC DYSPLASIA;

EID: 0035197621     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1067/mpd.2001.118423     Document Type: Letter

References (6)

1. Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse
2. Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia
3. Hormonal, metabolic and neuroradiologic abnormalities associated with septo-optic dysplasia
4. The endocrine spectrum of septo-optic dysplasia
5. Hypopituitarism and septo-optic dysplasia in first cousins
6. Septo-optic dysplasia in two sibling