Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia

PLoS ONE

Volumn 12, Issue 8, 2017, Pages

  Lipska Ziętkiewicz, Beata S ^a   Gellermann, Jutta ^b   Boyer, Olivia ^c,d   Gribouval, Olivier ^c   Ziętkiewicz, Szymon ^e   Kari, Jameela A ^f   Shalaby, Mohamed A ^f   Ozaltin, Fatih ^g   Dusek, Jiri ^h   Melk, Anette ⁱ   Bayazit, Aysun K ^j   Massella, Laura ^k   Hyla Klekot, Lidia ^l   Habbig, Sandra ^m   Godron, Astrid ⁿ   Szczepańska, Maria ^o   Bieniaś, Beata ^p   Drożdż, Dorota ^q   Odeh, Rasha ^r   Jarmużek, Wioletta ^s   Zachwieja, Katarzyna ^q   Trautmann, Agnes ^t   Antignac, Corinne ^c,d   Schaefer, Franz ^t   more..

^a MEDICAL UNIVERSITY OF GDANSK   (Poland)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c IMAGINE INSTITUTE   (France)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e UNIVERSITY OF GDA SK   (Poland)

^f KING ABDULAZIZ UNIVERSITY   (Saudi Arabia)

^g HACETTEPE UNIVERSITY   (Turkey)

^h UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

ⁱ HANNOVER MEDICAL SCHOOL   (Germany)

^j CUKUROVA UNIVERSITY   (Turkey)

^k BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^l IRCCS ^*  (Poland)

^m UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

ⁿ BORDEAUX UNIVERSITY HOSPITAL   (France)

^o MEDICAL UNIVERSITY OF SILESIA   (Poland)

^p MEDICAL UNIVERSITY OF LUBLIN   (Poland)

^q JAGIELLONIAN UNIVERSITY MEDICAL COLLEGE   (Poland)

^r UNIVERSITY OF JORDAN   (Jordan)

^s CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^t UNIVERSITY OF HEIDELBERG   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN ISCHEMIA; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE SEVERITY; END STAGE RENAL DISEASE; FEMALE; FOCAL GLOMERULOSCLEROSIS; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; GROWTH DISORDER; HUMAN; KIDNEY BIOPSY; KIDNEY DISEASE; KIDNEY FUNCTION; MALE; MINIMAL CHANGE GLOMERULONEPHRITIS; MISSENSE MUTATION; NEXT GENERATION SEQUENCING; ONSET AGE; PHENOTYPIC VARIATION; PRESCHOOL CHILD; PROTEINURIA; SCHIMKE IMMUNO OSSEOUS DYSPLASIA; SEPTICEMIA; SMARCAL1 GENE; SYMPTOM; SYSTEMIC DISEASE; ADOLESCENT; ADULT; ARTERIOSCLEROSIS; GENETICS; GENOTYPE; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; KIDNEY; MUTATION; NEPHROTIC SYNDROME; OSTEOCHONDRODYSPLASIAS; PATHOLOGY; PHENOTYPE; PULMONARY EMBOLISM; YOUNG ADULT;

DNA HELICASE; SMARCAL1 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTERIOSCLEROSIS; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DNA HELICASES; GENETIC TESTING; GENOTYPE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; KIDNEY; MUTATION; NEPHROTIC SYNDROME; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; PULMONARY EMBOLISM; YOUNG ADULT;

EID: 85027219757     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0180926     Document Type: Article

References (16)

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