Schimke immunoosseous dysplasia: Defining skeletal features

European Journal of Pediatrics

Volumn 169, Issue 7, 2010, Pages 801-811

  Hunter, Kshamta B ^a   Lücke, Thomas ^b   Spranger, Jürgen ^c   Smithson, Sarah F ^d   Alpay, Harika ^e   André, Jean Luc ^f   Asakura, Yumi ^g   Bogdanovic, Radovan ^h   Bonneau, Dominique ⁱ   Cairns, Robyn ^j   Cransberg, Karlien ^k   Fründ, Stefan ^l   Fryssira, Helen ^m   Goodman, David ⁿ   Helmke, Knut ^o   Hinkelmann, Barbara ^p   Lama, Guiliana ^q   Lamfers, Petra ^r   Loirat, Chantal ^s   Majore, Silvia ^t   Mayfield, Christy ^u   Pontz, Bertram F ^v   Rusu, Cristina ^w   Saraiva, Jorge M ^x   Schmidt, Beate ^y   Shoemaker, Lawrence ^z   Sigaudy, Sabine ^aa   Stajic, Natasa ^g   Taha, Doris ^ab   Boerkoel, Cornelius F ^a,ac   more..

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b HANNOVER MEDICAL SCHOOL   (Germany)

^c UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^d ST MICHAEL'S HOSPITAL   (United Kingdom)

^e MARMARA UNIVERSITY   (Turkey)

^f HÔPITAL D ENFANTS   (France)

^g KANAGAWA CHILDREN'S MEDICAL CENTER   (Japan)

^h Institute of Mother and Child Healthcare of Serbia   (Serbia)

ⁱ ANGERS UNIVERSITY HOSPITAL   (France)

^j UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^k SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^l KfH Kinderdialyse   (Germany)

^m UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

ⁿ UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^o UNIVERSITY OF HAMBURG   (Germany)

^p KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^q UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^r Mercy Pediatrics and Adolescent Clinic   (United States)

^s HÔPITAL ROBERT DEBRÉ   (France)

^t SAPIENZA UNIVERSITY OF ROME   (Italy)

^u Southcrest Family and Maternity Care   (United States)

^v TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^w Medical Genetics Centre   (Romania)

^x CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^y UNIVERSITY OF COLOGNE   (Germany)

^z KOSAIR CHILDREN'S HOSPITAL   (United States)

^aa TIMONE HOSPITAL   (France)

^ab KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^ac CHILDREN S AND WOMEN S HEALTH CENTRE OF BRITISH COLUMBIA   (Canada)

more..

Author keywords

Genocopy; Immunodeficiency; Locus heterogeneity; Proteinuria; Schimke immunoosseous dysplasia; Skeletal dysplasia

Indexed keywords

PROTEIN DERIVATIVE; SWI SNF RELATED MATRIX ASSOCIATED ACTIN DEPENDENT REGULATOR OF CHROMATIN SUBFAMILY A LIKE 1; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ANEMIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DIALYSIS; FACE DYSMORPHIA; FOCAL GLOMERULOSCLEROSIS; GENE MUTATION; HUMAN; HYPERTENSION; IMMUNE DEFICIENCY; KIDNEY FAILURE; LYMPHOCYTOPENIA; MIGRAINE; MUSCULOSKELETAL SYSTEM; MUSCULOSKELETAL SYSTEM MALFORMATION; NEPHROTIC SYNDROME; NEUTROPENIA; PRIORITY JOURNAL; PROTEINURIA; RECURRENT INFECTION; SCHIMKE IMMUNOOSSEOUS DYSPLASIA; SPONDYLOEPIPHYSEAL DYSPLASIA; STROKE; THROMBOCYTOPENIA; X RAY FILM;

EID: 77954404245     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-009-1115-9     Document Type: Article

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