Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears

American Journal of Human Genetics

Volumn 93, Issue 6, 2013, Pages 1118-1125

  Gordon, Christopher T ^a,b   Petit, Florence ^c   Kroisel, Peter M ^d   Jakobsen, Linda ^e   Zechi Ceide, Roseli Maria ^f   Oufadem, Myriam ^a,b   Bole Feysot, Christine ^g   Pruvost, Solenn ^g   Masson, Cécile ^b,g   Tores, Frédéric ^g   Hieu, Thierry ^g   Nitschké, Patrick ^b,g   Lindholm, Pernille ^h   Pellerin, Philippe ⁱ   Guion Almeida, Maria Leine ^f   Kokitsu Nakata, Nancy Mizue ^f   Vendramini Pittoli, Siulan ^f   Munnich, Arnold ^a,b   Lyonnet, Stanislas ^a,b   Holder Espinasse, Muriel ^j   Amiel, Jeanne ^a,b   more..

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c LILLE UNIVERSITY HOSPITAL   (France)

^d MEDICAL UNIVERSITY OF GRAZ   (Austria)

^e Mental Health Center Glostrup   (Denmark)

^f UNIVERSITY OF SÃO PAULO   (Brazil)

^g IMAGINE INSTITUTE   (France)

^h Rigshospitalet   (Denmark)

ⁱ UNIV LILLE   (France)

^j GUY S HOSPITAL   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ENDOTHELIN 1;

ARTICLE; AURICULOCONDYLAR SYNDROME; CRANIOFACIAL MALFORMATION; EAR MALFORMATION; EXOME; GENE MUTATION; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN CLEAVAGE; QUESTION MARK EAR; SIBLING; VERTICAL TRANSMISSION;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; DNA MUTATIONAL ANALYSIS; EAR; EAR DISEASES; ENDOTHELIN-1; FEMALE; GENES, DOMINANT; GENES, RECESSIVE; GENOTYPE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; SEQUENCE ALIGNMENT; SIGNAL TRANSDUCTION;

EID: 84890252917     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.10.023     Document Type: Article

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