Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development

Journal of Medical Genetics

Volumn 43, Issue 3, 2006, Pages 211-217

  Sanlaville, D ^a   Etchevers, H C ^a   Gonzales, M ^b   Martinovic, J ^a   Clement Ziza M ^a   Delezoide, A L ^c   Aubry, M C ^a   Pelet, A ^a   Chemouny, S ^a   Cruaud, C ^d   Audollent, S ^a   Esculpavit, C ^a   Goudefroye, G ^a   Ozilou, C ^a   Fredouille, C ^b   Joye, N ^b   Morichon Delvallez, N ^a   Dumez, Y ^a   Weissenbach, J ^d   Munnich, A ^a   Amiel, J ^a   Encha Razavi, F ^a   Lyonnet, S ^a   Vekemans, M ^a   Attie Bitach T ^a   more..

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b HÔPITAL SAINT ANTOINE   (France)

^c HÔPITAL ROBERT DEBRÉ   (France)

^d UniversitCrossed D Sign Paris Saclay   (France)

Author keywords

[No Author keywords available]

Indexed keywords

AGENESIS; ARTICLE; CENTRAL NERVOUS SYSTEM; CHD7 GENE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; FETUS; GENE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN DEVELOPMENT; IN SITU HYBRIDIZATION; INNER EAR; MALE; NEURAL CREST; PHARYNX; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SYNDROME CHARGE;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; DNA; DNA HELICASES; DNA PRIMERS; DNA-BINDING PROTEINS; EMBRYONIC DEVELOPMENT; FEMALE; FETAL DISEASES; HUMANS; IN SITU HYBRIDIZATION; MUTATION; PHENOTYPE; PREGNANCY; PRENATAL DIAGNOSIS; PROMOTER REGIONS (GENETICS); SEQUENCE DELETION; SYNDROME;

EID: 33645128921     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2005.036160     Document Type: Article

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