A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

Journal of Medical Genetics

Volumn 44, Issue 2, 2007, Pages 89-98

  Bicknell, Louise S ^b   Farrington Rock, Claire ^c   Shafeghati, Yousef ^d   Rump, Patrick ^e   Alanay, Yasemin ^f   Alembik, Yves ^g   Al Madani, Navid ^h   Firth, Helen ⁱ   Karimi Nejad, Mohammad Hassan ^h   Kim, Chong Ae ^j   Leask, Kathryn ^k   Maisenbacher, Melissa ^l   Moran, Ellen ^m   Pappas, John G ⁿ   Prontera, Paolo ^o   De Ravel, Thomy ^p   Fryns, Jean Pierre ^p   Sweeney, Elizabeth ^q   Fryer, Alan ^q   Linger, Sheila ^r   Wilson, L C ^s   Lachman, Ralph S ^c   Rimoin, David L ^c   Cohn, Daniel H ^c   Krakow, Deborah ^c   Robertson, Stephen P ^a,b   more..

^a UNIVERSITY OF OTAGO   (New Zealand)

^b UNIVERSITY OF OTAGO   (New Zealand)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF SOCIAL WELFARE AND REHABILITATION SCIENCES   (Iran)

^e UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^f HACETTEPE UNIVERSITY   (Turkey)

^g UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^h Karimi Nejad Pathology and Genetic Center   (Iran)

ⁱ ADDENBROOKE S HOSPITAL   (United Kingdom)

^j UNIVERSITY OF SÃO PAULO   (Brazil)

^k ST MARY S HOSPITAL   (United Kingdom)

^l UNIVERSITY OF FLORIDA   (United States)

^m NYU HOSPITAL FOR JOINT DISEASES   (United States)

ⁿ NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^o UNIVERSITY OF FERRARA   (Italy)

^p Department of Haematology   (Belgium)

^q ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

^r UNIVERSITY OF FREIBURG   (Germany)

^s GREAT ORMOND STREET HOSPITAL   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

FILAMIN; FILAMIN B; RESTRICTION ENDONUCLEASE; UNCLASSIFIED DRUG;

ARTICLE; CHONDRODYSPLASIA; CLINICAL ARTICLE; CLINICAL FEATURE; CLINICAL STUDY; CONTROLLED STUDY; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HETEROZYGOSITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; LARSEN SYNDROME; MALE; MISSENSE MUTATION; MOLECULAR BIOLOGY; PHENOTYPE; PRIORITY JOURNAL; RADIOGRAPHY;

ABNORMALITIES, MULTIPLE; CONTRACTILE PROTEINS; DNA; FEMALE; FINGER PHALANGES; HUMANS; KYPHOSIS; MALE; METACARPUS; MICROFILAMENT PROTEINS; MUTATION; PHENOTYPE; SPINE;

EID: 33847252858     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2006.043687     Document Type: Article

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