Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: A contiguous gene syndrome

Pediatric Nephrology

Volumn 26, Issue 8, 2011, Pages 1331-1334

  Kenny, Joanna ^a   Lees, Melissa M ^a   Drury, Susan ^a   Barnicoat, Angela ^a   Van't Hoff, William ^b   Palmer, Rodger ^a   Morrogh, Deborah ^a   Waters, Jonathan J ^a   Lench, Nicholas J ^a   Bockenhauer, Detlef ^b  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b NONE   (United Kingdom)

Author keywords

Idiopathic infantile hypercalcemia; Nephrocalcinosis; SLC34A1; Sotos syndrome

Indexed keywords

CALCIUM; NUCLEAR RECEPTOR SET DOMAIN CONTAINING PROTEIN; SODIUM PHOSPHATE COTRANSPORTER 2A; UNCLASSIFIED DRUG;

ARTICLE; BONE AGE; CALCIUM BLOOD LEVEL; CASE REPORT; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONSTIPATION; CONTIGUOUS GENE SYNDROME; CYSTOGRAPHY; DISEASE ASSOCIATION; DNA POLYMORPHISM; FACE PROFILE; FEBRILE CONVULSION; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GROWTH RETARDATION; HETEROZYGOTE; HUMAN; HYPERCALCEMIA; HYPERCALCIURIA; INFANT; INFANTILE HYPERCALCEMIA; INFANTILE HYPOTONIA; KIDNEY CALCIFICATION; MACROSOMIA; NEPHROLITHIASIS; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SOTOS SYNDROME; URINARY TRACT INFECTION; VOMITING;

CHROMOSOMES, HUMAN, PAIR 5; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENE DELETION; HUMANS; HYPERCALCEMIA; INFANT; INFANT, NEWBORN; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MUTATION; NEPHROCALCINOSIS; NUCLEAR PROTEINS; SODIUM-PHOSPHATE COTRANSPORTER PROTEINS, TYPE IIA; SOTOS SYNDROME;

EID: 80052454764     PISSN: 0931041X     EISSN: 1432198X     Source Type: Journal    
DOI: 10.1007/s00467-011-1884-z     Document Type: Article

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