A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: Is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes? [10]

Journal of Medical Genetics

Volumn 38, Issue 3, 2001, Pages 205-208

  Pingault, V ^a   Bondurand, N ^a   Lemort, N ^a   Sancandi, M ^a   Ceccherini, I ^a   Hugot, J P ^a   Jouk, P S ^a   Goossens, M ^a  

^a HENRI MONDOR HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ENDOTHELIN 3; ENDOTHELIN B RECEPTOR;

CASE REPORT; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; FEMALE; GENE DOSAGE; GENE MUTATION; GENETIC COUNSELING; HETEROZYGOSITY; HIRSCHSPRUNG DISEASE; HUMAN; LETTER; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; WAARDENBURG SYNDROME;

AMINO ACID SEQUENCE; DNA; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; ENDOTHELIN-3; FAMILY HEALTH; FATAL OUTCOME; FEMALE; HETEROZYGOTE; HIGH MOBILITY GROUP PROTEINS; HIRSCHSPRUNG DISEASE; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NEURAL CREST; PEDIGREE; PHENOTYPE; RECEPTOR, ENDOTHELIN B; RECEPTORS, ENDOTHELIN; TRANSCRIPTION FACTORS; WAARDENBURG'S SYNDROME;

EID: 0035088039     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

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