Hirschsprung disease, associated syndromes and genetics: A review

Journal of Medical Genetics

Volumn 45, Issue 1, 2008, Pages 1-14

  Amiel, Jeanne ^a,i   Sproat Emison, E ^b   Garcia Barcelo, M ^c   Lantieri, F ^d,e   Burzynski, G ^f   Borrego, S ^g   Pelet, A ^a   Arnold, S ^b   Miao, X ^c   Griseri, P ^d   Brooks, A S ^f,h   Antinolo, G ^g   De Pontual, L ^a   Clement Ziza, M ^a   Munnich, A ^a   Kashuk, C ^b   West, K ^b   Wong, K K Y ^c   Lyonnet, S ^a   Chakravarti, A ^b   Tam, P K H ^c   Ceccherini, I ^d   Hofstra, R M W ^f   Fernandez, R ^g   more..

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF HONG KONG   (Hong Kong)

^d G GASLINI INSTITUTE   (Italy)

^e UNIVERSITY OF GENOA   (Italy)

^f UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^g HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^h ERASMUS MEDICAL CENTER   (Netherlands)

ⁱ HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ECE1 PROTEIN; EDN3 PROTEIN; EDNRB PROTEIN; ENDOTHELIN; GLIAL CELL LINE DERIVED NEUROTROPHIC FACTOR; PHOX2B PROTEIN; PROTEIN; PROTEIN RET; T CELL FACTOR PROTEIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR SOX10; TYROSINE KINASE RECEPTOR; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN; PROTEIN TYROSINE KINASE;

BARDET BIEDL SYNDROME; CARTILAGE HYPOPLASIA; CHROMOSOME ABERRATION; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; ENHANCER REGION; GALACTOSIALIDOSIS; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; GENETIC DISORDER; HIRSCHSPRUNG DISEASE; HUMAN; HYPOVENTILATION; INCIDENCE; INHERITANCE; INTESTINE OBSTRUCTION; LIMB MALFORMATION; LIVE BIRTH; MOLECULAR GENETICS; MORBIDITY; MORTALITY; NEUROBLASTOMA; PRIORITY JOURNAL; PROGNOSIS; REVIEW; SIPPLE SYNDROME; SMITH LEMLI OPITZ SYNDROME; VELOCARDIOFACIAL SYNDROME; WAARDENBURG SYNDROME; WILSON DISEASE; FEMALE; GENETICS; MALE; MOLECULAR BIOLOGY; MUTATION; PATHOLOGY; SYNDROME;

CHROMOSOME ABERRATIONS; FEMALE; HIRSCHSPRUNG DISEASE; HUMANS; INTESTINAL OBSTRUCTION; MALE; MOLECULAR BIOLOGY; MUTATION; RECEPTOR PROTEIN-TYROSINE KINASES; SYNDROME;

EID: 38349112858     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2007.053959     Document Type: Review

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