TCTN3 mutations cause Mohr-Majewski syndrome

American Journal of Human Genetics

Volumn 91, Issue 2, 2012, Pages 372-378

  Thomas, Sophie ^a,b   Legendre, Marine ^a   Saunier, Sophie ^a,b   Bessières, Bettina ^a   Alby, Caroline ^a,b   Bonnière, Maryse ^a   Toutain, Annick ^c   Loeuillet, Laurence ^d   Szymanska, Katarzyna ^e   Jossic, Frédérique ^f   Gaillard, Dominique ^g   Yacoubi, Mohamed Tahar ^h   Mougou Zerelli, Soumaya ^h   David, Albert ⁱ   Barthez, Marie Anne ^j   Ville, Yves ^a,b   Bole Feysot, Christine ^a   Nitschke, Patrick ^b   Lyonnet, Stanislas ^a,b   Munnich, Arnold ^a,b   Johnson, Colin A ^e   Encha Razavi, Férechté ^a,b   Cormier Daire, Valérie ^a,b   Thauvin Robinet, Christel ^k,l   Vekemans, Michel ^a,b   Attié Bitach, Tania ^a,b   more..

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c UNIVERSITY HOSPITAL OF TOURS   (France)

^d CENTRE HOSPITALIER INTERCOMMUNAL   (France)

^e ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^f NANTES UNIVERSITY HOSPITAL   (France)

^g REIMS UNIVERSITY HOSPITAL   (France)

^h FARHAT HACHED HOSPITAL   (Tunisia)

ⁱ HÔTEL DIEU   (France)

^j Centre de Pediatrie Clocheville   (France)

^k Medical University of Dijon   (France)

^l UNIVERSITÉ DE BOURGOGNE   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

SONIC HEDGEHOG PROTEIN;

ADULT; ARTICLE; BONE DYSPLASIA; BRAIN MALFORMATION; CONGENITAL DISORDER; DYSOSTOSIS; EXOME; FETUS; GENE; GENE MAPPING; GENE SEQUENCE; HOMOZYGOSITY; HUMAN; JOUBERT SYNDROME; KIDNEY POLYCYSTIC DISEASE; MAJOR CLINICAL STUDY; MALE; MECKEL SYNDROME; MISSENSE MUTATION; MOHR MAJEWSKI SYNDROME; NUCLEOTIDE SEQUENCE; POLYDACTYLY; PRIORITY JOURNAL; TCTN1 GENE; TCTN2 GENE; TCTN3 GENE;

ADOLESCENT; BASE SEQUENCE; CEREBELLUM; CHILD; CLEFT PALATE; EXOME; FETUS; FOOT DEFORMITIES, CONGENITAL; HAND DEFORMITIES, CONGENITAL; HEDGEHOG PROTEINS; HOMOZYGOTE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; OROFACIODIGITAL SYNDROMES; PHENOTYPE; SEQUENCE ANALYSIS, DNA; SIGNAL TRANSDUCTION; YOUNG ADULT;

EID: 84864949904     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.06.017     Document Type: Article

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