Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

Journal of Medical Genetics

Volumn 48, Issue 6, 2011, Pages 417-421

  Allali, Slimane ^a   Le Goff, Carine ^a   Pressace Diebold, Isabelle ^a   Pfennig, Gwendoline ^a   Mahaut, Clémentine ^a   Dagoneau, Nathalie ^a   Alanay, Yasemin ^b   Brady, Angela F ^c   Crow, Yanick J ^d   Devriendt, Koen ^e   Drouin Garraud, Valérie ^f   Flori, Elisabeth ^g   Geneviève, David ^h   Hennekam, Raoul C ⁱ   Hurst, Jane ^j   Krakow, Deborah ^k   Le Merrer, Martine ^a   Lichtenbelt, Klaske D ^l   Lynch, Sally A ^m   Lyonnet, Stanislas ^a   MacDermot, Kay ^c   Mansour, Sahar ⁿ   Megarbané, André ^o   Santos, Heloisa G ^p   Splitt, Miranda ^q   Superti Furga, Andrea ^r   Unger, Sheila ^r   Williams, Denise ^s   Munnich, Arnold ^a   Cormier Daire, Valérie ^a   more..

^a INSERM   (France)

^b HACETTEPE UNIVERSITY   (Turkey)

^c NORTHWICK PARK HOSPITAL   (United Kingdom)

^d UNIVERSITY OF MANCHESTER   (United Kingdom)

^e UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^f HÔPITAL CHARLES NICOLLE   (France)

^g UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^h HÔPITAL ARNAUD DE VILLENEUVE   (France)

ⁱ UNIVERSITY OF AMSTERDAM   (Netherlands)

^j OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^k CEDARS SINAI MEDICAL CENTER   (United States)

^l UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^m National Centre for Medical Genetics   (Ireland)

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

^o SAINT JOSEPH UNIVERSITY   (Lebanon)

^p Department of Medical Genetics ^*  (Portugal)

^q NEWCASTLE UNIVERSITY   (United Kingdom)

^r LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^s BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

A DISINTEGRIN AND METALLOPROTEINASE WITH THROMBOSPONDIN REPEATS LIKE 2 PROTEIN; DNA; METALLOPROTEINASE; UNCLASSIFIED DRUG;

ADAMTSL 2 GENE; ADOLESCENT; ADULT; ARTICLE; BONE RADIOGRAPHY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; FACE DYSMORPHIA; FEMALE; GELEOPHYSIC DYSPLASIA; GENE; GENETIC HETEROGENEITY; GENETIC SCREENING; HUMAN; INFANT; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; TIP TOE WALKING; WALKING;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CONNECTIVE TISSUE; DWARFISM; EUROPE; EXTRACELLULAR MATRIX PROTEINS; EYE ABNORMALITIES; FEMALE; GENETIC HETEROGENEITY; HUMANS; INCLUSION BODIES; INFANT; JAPAN; MALE; MIDDLE EAST; MUTATION; PEDIGREE; SKIN ABNORMALITIES;

EID: 79958065566     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2010.087544     Document Type: Article

References (9)

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