Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome

Pediatric Nephrology

Volumn 30, Issue 6, 2015, Pages 931-943

  Recker, Florian ^a   Zaniew, Marcin ^b   Böckenhauer, Detlef ^c   Miglietti, Nunzia ^d   Bökenkamp, Arend ^e   Moczulska, Anna ^f   Rogowska Kalisz, Anna ^g   Laube, Guido ^h   Said Conti, Valerie ⁱ   Kasap Demir, Belde ^j   Niemirska, Anna ^k   Litwin, Mieczysław ^k   Siteń, Grzegorz ^l   Chrzanowska, Krystyna H ^k   Krajewska Walasek, Małgorzata ^k   Sethi, Sidharth K ^m   Tasic, Velibor ⁿ   Anglani, Franca ^o   Addis, Maria ^p   Wasilewska, Anna ^q   Szczepańska, Maria ^r   Pawlaczyk, Krzysztof ^s   Sikora, Przemysław ^t   Ludwig, Michael ^a   more..

^a UNIVERSITY OF BONN   (Germany)

^b Public Children's Hospital   (Poland)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY OF BRESCIA   (Italy)

^e VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^f JAGIELLONIAN UNIVERSITY MEDICAL COLLEGE   (Poland)

^g POLISH MOTHER S MEMORIAL HOSPITAL RESEARCH INSTITUTE   (Poland)

^h Center for MR Research Children's Hospital Zürich   (Switzerland)

ⁱ MATER DEI HOSPITAL   (Malta)

^j Tepecik Training and Research Hospital   (Turkey)

^k CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^l District Hospital No 2   (Poland)

^m Kidney and Urology Institute   (India)

ⁿ UNIVERSITY CHILDREN S HOSPITAL   (Macedonia)

^o UNIVERSITY OF PADOVA   (Italy)

^p UNIVERSITY OF CAGLIARI   (Italy)

^q MEDICAL UNIVERSITY OF BIALYSTOK   (Poland)

^r MEDICAL UNIVERSITY OF SILESIA   (Poland)

^s POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^t MEDICAL UNIVERSITY OF LUBLIN   (Poland)

more..

Author keywords

Cataract; CpG dinucleotides; Hyperacusis; Hyperosmia; OCRL; Oculocerebrorenal syndrome of Lowe; Thrombocytopenia

Indexed keywords

OCRL PROTEIN, HUMAN; PHOSPHATASE;

ADOLESCENT; CATARACT; CHILD; CHROMOSOME BREAKAGE; CLINICAL TRIAL; CPG ISLAND; DISEASE COURSE; EUROPE; FEMALE; GENETIC PREDISPOSITION; GENETICS; HEREDITY; HETEROZYGOTE; HUMAN; HYPERACUSIS; INDIA; INFANT; MALE; MULTICENTER STUDY; MUTATION; NUCLEOTIDE SEQUENCE; OCULOCEREBRORENAL SYNDROME; PEDIGREE; PHENOTYPE; PREDICTIVE VALUE; PRESCHOOL CHILD; PREVALENCE; RENAL INSUFFICIENCY, CHRONIC; THROMBOCYTOPENIA; TIME; YOUNG ADULT;

ADOLESCENT; CATARACT; CHILD; CHILD, PRESCHOOL; CHROMOSOME BREAKPOINTS; CPG ISLANDS; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; EUROPE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEREDITY; HETEROZYGOTE; HUMANS; HYPERACUSIS; INDIA; INFANT; MALE; MUTATION; OCULOCEREBRORENAL SYNDROME; PEDIGREE; PHENOTYPE; PHOSPHORIC MONOESTER HYDROLASES; PREDICTIVE VALUE OF TESTS; PREVALENCE; RENAL INSUFFICIENCY, CHRONIC; THROMBOCYTOPENIA; TIME FACTORS; YOUNG ADULT;

EID: 84939940234     PISSN: 0931041X     EISSN: 1432198X     Source Type: Journal    
DOI: 10.1007/s00467-014-3013-2     Document Type: Article

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