In-frame mutations in exon 1 of SKI cause dominant shprintzen-goldberg syndrome

American Journal of Human Genetics

Volumn 91, Issue 5, 2012, Pages 950-957

  Carmignac, Virginie ^a   Thevenon, Julien ^a,b   Adès, Lesley ^c,d   Callewaert, Bert ^e   Julia, Sophie ^f   Thauvin Robinet, Christel ^a,b   Gueneau, Lucie ^a   Courcet, Jean Benoit ^a   Lopez, Estelle ^a   Holman, Katherine ^c,d   Renard, Marjolijn ^e   Plauchu, Henri ^g   Plessis, Ghislaine ^h   De Backer, Julie ^e   Child, Anne ⁱ   Arno, Gavin ⁱ   Duplomb, Laurence ^a   Callier, Patrick ^a,j   Aral, Bernard ^a,j   Vabres, Pierre ^a,k   Gigot, Nadège ^a   Arbustini, Eloisa ^l   Grasso, Maurizia ^l   Robinson, Peter N ^m   Goizet, Cyril ^n,o   Baumann, Clarisse ^p   Di Rocco, Maja ^q   Sanchez Del Pozo, Jaime ^r   Huet, Frédéric ^a   Jondeau, Guillaume ^s   Collod Beroud, Gwenaëlle ^t   Beroud, Christophe ^t,u   Amiel, Jeanne ^u   Cormier Daire, Valérie ^v   Rivière, Jean Baptiste ^a,j   Boileau, Catherine ^w   De Paepe, Anne ^e   Faivre, Laurence ^a,b   more..

^a UNIVERSITÉ DE BOURGOGNE   (France)

^b Medical University of Dijon   (France)

^c CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^d UNIVERSITY OF SYDNEY   (Australia)

^e GHENT UNIVERSITY HOSPITAL   (Belgium)

^f CHU PURPAN   (France)

^g UNIVERSITÉ LYON 1   (France)

^h CAEN UNIVERSITY HOSPITAL   (France)

ⁱ ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^j DIJON UNIVERSITY HOSPITAL   (France)

^k HÔPITAL DU BOCAGE   (France)

^l FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^m CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

ⁿ BORDEAUX UNIVERSITY HOSPITAL   (France)

^o UNIVERSITÉ DE BORDEAUX   (France)

^p HÔPITAL ROBERT DEBRÉ   (France)

^q G GASLINI INSTITUTE   (Italy)

^r HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^s BICHAT HOSPITAL   (France)

^t AIX MARSEILLE UNIVERSITY   (France)

^u TIMONE HOSPITAL   (France)

^v INSERM   (France)

^w LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

SKI PROTEIN; SMAD PROTEIN; SMAD2 PROTEIN; SMAD3 PROTEIN; SMAD4 PROTEIN; TRANSCRIPTION FACTOR; TRANSFORMING GROWTH FACTOR BETA; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; CRANIOFACIAL SYNOSTOSIS; EXOME; EXON; FAMILY; FEMALE; GALACTOSIALIDOSIS; GENE DELETION; GENE EXPRESSION; GENETIC SCREENING; HETEROZYGOSITY; HUMAN; MALE; MARFAN SYNDROME; MISSENSE MUTATION; MOSAICISM; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; RISK FACTOR; SCHOOL CHILD; SEQUENCE ANALYSIS; SHPRINTZEN GOLDBERG SYNDROME; SIGNAL TRANSDUCTION; SOMATIC MUTATION; VELOCARDIOFACIAL SYNDROME;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ARACHNODACTYLY; CHILD; CHILD, PRESCHOOL; CRANIOSYNOSTOSES; DNA-BINDING PROTEINS; EXONS; FACIES; FEMALE; GENE ORDER; GENES, DOMINANT; HUMANS; MALE; MARFAN SYNDROME; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; PROTO-ONCOGENE PROTEINS; SEQUENCE ALIGNMENT; YOUNG ADULT;

MUS;

EID: 84868498164     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.10.002     Document Type: Article

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