Identification of Novel Craniofacial Regulatory Domains Located far Upstream of SOX9 and Disrupted in Pierre Robin Sequence

Human Mutation

Volumn 35, Issue 8, 2014, Pages 1011-1020

  Gordon, Christopher T ^a   Attanasio, Catia ^b,c   Bhatia, Shipra ^d   Benko, Sabina ^a,e   Ansari, Morad ^d   Tan, Tiong Y ^f   Munnich, Arnold ^a,g   Pennacchio, Len A ^b,h   Abadie, Véronique ^a   Temple, I Karen ⁱ   Goldenberg, Alice ^j   van Heyningen, Veronica ^d   Amiel, Jeanne ^a,g   Fitzpatrick, David ^d   Kleinjan, Dirk A ^d   Visel, Axel ^b,h,k   Lyonnet, Stanislas ^a,g  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b LAWRENCE BERKELEY NATIONAL LABORATORY   (United States)

^c UNIVERSITY OF LAUSANNE   (Switzerland)

^d UNIVERSITY OF EDINBURGH   (United Kingdom)

^e MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^f ROYAL CHILDREN'S HOSPITAL   (Australia)

^g HÔPITAL NECKER ENFANTS MALADES   (France)

^h DOE JOINT GENOME INSTITUTE   (United States)

ⁱ UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^j HÔPITAL CHARLES NICOLLE   (France)

^k UNIVERSITY OF CALIFORNIA   (United States)

more..

Author keywords

Campomelic dysplasia; Craniofacial; Enhancer; Long range regulation; Pierre Robin; SOX9

Indexed keywords

HISTONE ACETYLTRANSFERASE PCAF; P300-CBP-ASSOCIATED FACTOR; SOX9 PROTEIN, HUMAN; SOX9 PROTEIN, MOUSE; TRANSCRIPTION FACTOR SOX9;

ADULT; ANIMAL; CAMPOMELIC DYSPLASIA; CHILD; CHROMOSOME 17; CONGENITAL MALFORMATION; ENHANCER REGION; FEMALE; GENE LOCUS; GENETICS; HUMAN; MALE; MANDIBLE; METABOLISM; MOLECULAR GENETICS; MOUSE; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PIERRE ROBIN SYNDROME; TRANSGENIC MOUSE; ZEBRA FISH;

ADULT; ANIMALS; BASE SEQUENCE; CAMPOMELIC DYSPLASIA; CHILD; CHROMOSOMES, HUMAN, PAIR 17; ENHANCER ELEMENTS, GENETIC; FEMALE; GENETIC LOCI; HUMANS; MALE; MANDIBLE; MICE; MICE, TRANSGENIC; MOLECULAR SEQUENCE DATA; MUTATION; P300-CBP TRANSCRIPTION FACTORS; PEDIGREE; PIERRE ROBIN SYNDROME; SOX9 TRANSCRIPTION FACTOR; ZEBRAFISH;

EID: 84904405924     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22606     Document Type: Article

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