A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome

American Journal of Human Genetics

Volumn 90, Issue 5, 2012, Pages 907-914

  Rieder, Mark J ^a   Green, Glenn E ^b   Park, Sarah S ^c   Stamper, Brendan D ^c   Gordon, Christopher T ^d,e   Johnson, Jason M ^f   Cunniff, Christopher M ^g   Smith, Joshua D ^a   Emery, Sarah B ^b   Lyonnet, Stanislas ^d,e   Amiel, Jeanne ^d,e   Holder, Muriel ^h   Heggie, Andrew A ⁱ   Bamshad, Michael J ^a,j   Nickerson, Deborah A ^a   Cox, Timothy C ^c,j,k   Hing, Anne V ^c,j   Horst, Jeremy A ^l   Cunningham, Michael L ^c,j  

^a UNIVERSITY OF WASHINGTON   (United States)

^b UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^c SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e UNIVERSITÉ PARIS DESCARTES   (France)

^f MASSACHUSETTS GENERAL HOSPITAL   (United States)

^g UNIVERSITY OF ARIZONA COLLEGE OF MEDICINE   (United States)

^h LILLE UNIVERSITY HOSPITAL   (France)

ⁱ ROYAL CHILDREN'S HOSPITAL   (Australia)

^j UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^k MONASH UNIVERSITY   (Australia)

^l UNIVERSITY OF CALIFORNIA   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ENDOTHELIN 1; ENDOTHELIN A RECEPTOR; GNAI3 PROTEIN; HOMEODOMAIN PROTEIN; PEPTIDES AND PROTEINS; PLCB4 PROTEIN; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; AURICULOCONDYLAR SYNDROME; CHROMOSOME; CRANIOFACIAL MALFORMATION; DROSOPHILA; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN STRUCTURE; TEMPOROMANDIBULAR ANKYLOSIS;

AMINO ACID SEQUENCE; COHORT STUDIES; EAR; EAR DISEASES; ENDOTHELIN-1; EXOME; FEMALE; GENE EXPRESSION REGULATION; GTP-BINDING PROTEIN ALPHA SUBUNITS, GI-GO; HOMEODOMAIN PROTEINS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; PHOSPHOLIPASE C BETA; PROTEIN CONFORMATION; SEQUENCE ANALYSIS, RNA;

EID: 84860748491     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.04.002     Document Type: Article

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