The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: A novel deletion syndrome on chromosome 3q13.31-22.1

Pediatric Nephrology

Volumn 29, Issue 2, 2014, Pages 257-267

  Materna Kiryluk, Anna ^a,b,c   Kiryluk, Krzysztof ^d   Burgess, Katelyn E ^d   Bieleninik, Arkadiusz ^e   Sanna Cherchi, Simone ^d,f   Gharavi, Ali G ^d   Latos Bielenska, Anna ^a,b,c  

^a POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^b Polish Registry of Congenital Malformations   (Poland)

^c Center for Medical Genetics GENESIS   (Poland)

^d Och Spine at New York Presbyterian Hospitals   (United States)

^e Goleniów Hospital Medical Center   (Poland)

^f ST LUKE S ROOSEVELT HOSPITAL CENTER   (United States)

Author keywords

Agenesis of corpus callosum; CAKUT; Chromosome deletion; Clinical management; Copy number variants; Genetics; Neurodevelopmental delay

Indexed keywords

ADOLESCENT; AORTA ANEURYSM; APGAR SCORE; ARTICLE; CASE REPORT; CHROMOSOME 3Q; CHROMOSOME DELETION; CHROMOSOME DELETION 3Q13.31-22.1; CONGENITAL MALFORMATION; CORPUS CALLOSUM AGENESIS; FEMALE; GENE DELETION; GENOMICS; HUMAN; HYPERCALCEMIA; HYPOTHYROIDISM; KIDNEY AGENESIS; KIDNEY CARCINOMA; MEDICAL GENETICS; MOLECULAR DIAGNOSIS; MYELOPROLIFERATIVE DISORDER; PHENOTYPE; PRIORITY JOURNAL; SKELETON MALFORMATION; URINALYSIS; URINARY TRACT MALFORMATION; UROGENITAL TRACT MALFORMATION;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 3; FEMALE; GENOMICS; HUMANS; SEQUENCE DELETION; SYNDROME; URINARY TRACT;

EID: 84892798226     PISSN: 0931041X     EISSN: 1432198X     Source Type: Journal    
DOI: 10.1007/s00467-013-2625-2     Document Type: Article

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