Haploinsufficiency for Phox2b in mice causes dilated pupils and atrophy of the ciliary ganglion: Mechanistic insights into human congenital central hypoventilation syndrome

Human Molecular Genetics

Volumn 13, Issue 14, 2004, Pages 1433-1439

  Cross, Sally H ^a   Morgan, Joanne E ^a   Pattyn, Alexandre ^b   West, Katrine ^a   McKie, Lisa ^a   Hart, Alan ^a   Thaung, Caroline ^c,d   Brunet, Jean François ^b   Jackson, Ian J ^a  

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

^b ECOLE NORMALE SUPÉRIEURE   (France)

^c LEEDS GENERAL INFIRMARY   (United Kingdom)

^d MANCHESTER ROYAL EYE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

HOMEODOMAIN PROTEIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR PHOX2B; UNCLASSIFIED DRUG;

ADRENERGIC SYSTEM; ALLELE; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; AUTONOMIC NERVOUS SYSTEM; CHOLINERGIC SYSTEM; CILIARY GANGLION; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; DNA BINDING; EMBRYO; GENE SEQUENCE; GENE TARGETING; GENETIC CODE; HUMAN; HYPOVENTILATION; IMMUNOHISTOCHEMISTRY; MOLECULAR MECHANICS; MOUSE; MYDRIASIS; NONHUMAN; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN FUNCTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; STOP CODON;

ALLELES; ANIMALS; CILIARY BODY; GANGLIA, PARASYMPATHETIC; HOMEODOMAIN PROTEINS; HUMANS; MICE; MUTATION; PEPTIDES; PUPIL DISORDERS; SLEEP APNEA, CENTRAL; SYNDROME; TRANSCRIPTION FACTORS;

EID: 3543093200     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddh156     Document Type: Article

References (23)

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