Mutations in KCTD1 cause scalp-ear-nipple syndrome

American Journal of Human Genetics

Volumn 92, Issue 4, 2013, Pages 621-626

  Marneros, Alexander G ^a   Beck, Anita E ^b   Turner, Emily H ^c   McMillin, Margaret J ^b   Edwards, Matthew J ^d   Field, Michael ^e   De Macena Sobreira, Nara Lygia ^f   Perez, Ana Beatriz A ^g   Fortes, Jose A R ^h   Lampe, Anne K ⁱ   Giovannucci Uzielli, Maria Luisa ^j,k   Gordon, Christopher T ^l,m   Plessis, Ghislaine ⁿ   Le Merrer, Martine ⁿ   Amiel, Jeanne ⁿ   Reichenberger, Ernst ^o   Shively, Kathryn M ^b   Cerrato, Felecia ^p   Labow, Brian I ^p   Tabor, Holly K ^q   Smith, Joshua D ^c   Shendure, Jay ^c   Nickerson, Deborah A ^c   Bamshad, Michael J ^b,c   more..

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

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

^c UNIVERSITY OF WASHINGTON   (United States)

^d UNIVERSITY OF WESTERN SYDNEY   (Australia)

^e Hunter Genetics   (Australia)

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

^g FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^h PONTIFICAL CATHOLIC UNIVERSITY OF PARANÁ   (Brazil)

ⁱ WESTERN GENERAL HOSPITAL   (United Kingdom)

^j UNIVERSITY OF FLORENCE   (Italy)

^k Genetic Science   (Italy)

^l HÔPITAL NECKER ENFANTS MALADES   (France)

^m UNIVERSITÉ PARIS DESCARTES   (France)

ⁿ CHU CÔTE DE NACRE   (France)

^o UNIVERSITY OF CONNECTICUT HEALTH CENTER   (United States)

^p BOSTON CHILDREN S HOSPITAL   (United States)

^q SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR AP 2;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BREAST MALFORMATION; CLINICAL ARTICLE; EXOME; EXTERNAL EAR MALFORMATION; FEMALE; GENE SEQUENCE; HUMAN; LINKAGE ANALYSIS; MALE; MISSENSE MUTATION; NAIL DYSPLASIA; PRIORITY JOURNAL; RARE DISEASE; SCALP EAR NIPPLE SYNDROME; SKIN APLASIA; SYNDACTYLY; TRANSACTIVATION;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; BRANCHIO-OTO-RENAL SYNDROME; EAR, EXTERNAL; ECTODERMAL DYSPLASIA; EXOME; FEMALE; HUMANS; HYPOSPADIAS; MALE; MOLECULAR SEQUENCE DATA; MUSCLE HYPOTONIA; MUTATION, MISSENSE; NIPPLES; PEDIGREE; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; REPRESSOR PROTEINS; SCALP; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 84875934480     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.03.002     Document Type: Article

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