Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta

Human Molecular Genetics

Volumn 24, Issue 11, 2014, Pages 3038-3049

  Huckert, Mathilde ^a,b   Stoetzel, Corinne ^a   Morkmued, Supawich ^a,c   Laugel Haushalter, Virginie ^a   Geoffroy, Véronique ^a   Muller, Jean ^a,b   Clauss, François ^a,b   Prasad, Megana K ^a   Obry, Frédéric ^a,b   Raymond, Jean Louis ^a   Switala, Marzena ^a,b   Alembik, Yves ^b   Soskin, Sylvie ^b   Mathieu, Eric ^a   Hemmerlé, Joseph ^a   Weickert, Jean Luc ^a   Dabovic, Branka Brukner ^d   Rifkin, Daniel B ^d   Dheedene, Annelies ^e   Boudin, Eveline ^f   Caluseriu, Oana ^g   Cholette, Marie Claude ^g   Mcleod, Ross ^g   Antequera, Reynaldo ^h   Gellé, Marie Paule ^i,j   Coeuriot, Jean Louis ⁱ   Jacquelin, Louis Frédéric ⁱ   Bailleul Forestier, Isabelle ^k   Manière, Marie Cécile ^a,b   Van Hul, Wim ^f   Bertola, Debora ^h   Dollé, Pascal ^a   Verloes, Alain ^l   Mortier, Geert ^e,f   Dollfus, Hélène ^a,b   Bloch Zupan, Agnès ^a,b   more..

^a UNIVERSITÉ DE STRASBOURG   (France)

^b UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^c KHON KAEN UNIVERSITY   (Thailand)

^d NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

^e GHENT UNIVERSITY HOSPITAL   (Belgium)

^f UNIVERSITY OF ANTWERP   (Belgium)

^g UNIVERSITY OF CALGARY   (Canada)

^h UNIVERSITY OF SÃO PAULO   (Brazil)

ⁱ UNIVERSITÉ DE REIMS CHAMPAGNE ARDENNE   (France)

^j UNIVERSITÉ DE REIMS CHAMPAGNE ARDENNE   (France)

^k UNIVERSITÉ PAUL SABATIER   (France)

^l HÔPITAL ROBERT DEBRÉ   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEINS AND BINDING PROTEINS; COMPLEMENTARY DNA; LATENT TGF BETA BINDING PROTEIN 3; UNCLASSIFIED DRUG; LATENT TRANSFORMING GROWTH FACTOR BETA BINDING PROTEIN; LTBP3 PROTEIN, HUMAN;

AMELOBLAST; AMELOGENESIS IMPERFECTA; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BONE DYSPLASIA; BRACHYOLMIA; CLINICAL ARTICLE; CLINICAL FEATURE; ENAMEL; EXON; FEMALE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HISTOLOGY; HUMAN; IN SITU HYBRIDIZATION; KNOCKOUT MOUSE; MALE; MICRO-COMPUTED TOMOGRAPHY; MOUSE; NONHUMAN; ODONTOBLAST; PHENOTYPE; PRIORITY JOURNAL; SCANNING ELECTRON MICROSCOPY; TOOTH DEVELOPMENT; X RAY FILM; ADOLESCENT; ANIMAL; C57BL MOUSE; CHILD; CHONDRODYSPLASIA; CONSANGUINITY; DIAGNOSTIC IMAGING; DNA MUTATIONAL ANALYSIS; FRAMESHIFT MUTATION; GENE DELETION; GENETIC ASSOCIATION STUDY; GENETICS; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; RADIOGRAPHY;

MUS;

ADOLESCENT; AMELOGENESIS IMPERFECTA; ANIMALS; BASE SEQUENCE; CHILD; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FEMALE; FRAMESHIFT MUTATION; GENETIC ASSOCIATION STUDIES; HUMANS; LATENT TGF-BETA BINDING PROTEINS; MALE; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; MUTATION, MISSENSE; OSTEOCHONDRODYSPLASIAS; PEDIGREE; RADIOGRAPHY; SEQUENCE DELETION;

EID: 84930718132     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv053     Document Type: Article

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