Exome sequencing discerns syndromes in patients from consanguineous families with congenital anomalies of the kidneys and urinary tract

Journal of the American Society of Nephrology

Volumn 28, Issue 1, 2017, Pages 69-75

  Vivante, Asaf ^a,b   Hwang, Daw Yang ^a,c   Kohl, Stefan ^a,d   Chen, Jing ^a   Shril, Shirlee ^a   Schulz, Julian ^a   Van Der Ven, Amelie ^a   Daouk, Ghaleb ^a   Soliman, Neveen A ^e,f   Kumar, Aravind Selvin ^g   Senguttuvan, Prabha ^g   Kehinde, Elijah O ^h   Tasic, Velibor ⁱ   Hildebrandt, Friedhelm ^a,j  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b SHEBA MEDICAL CENTER   (Israel)

^c KAOHSIUNG MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^d UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^e CAIRO UNIVERSITY   (Egypt)

^f Egyptian Group for Orphan Renal Diseases   (Egypt)

^g INSTITUTE OF CHILD HEALTH AND HOSPITAL FOR CHILDREN   (India)

^h KUWAIT UNIVERSITY   (Kuwait)

ⁱ UNIVERSITY CHILDREN S HOSPITAL   (Macedonia)

^j HOWARD HUGHES MEDICAL INSTITUTE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

FIBROCYSTIN; GENOMIC DNA;

AGXT GENE; AQP2 GENE; ARTICLE; ASPH GENE; ATRX GENE; CHILD; CHRONIC KIDNEY FAILURE; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL ANOMALY OF THE KIDNEY AND URINARY TRACT; CONSANGUINITY; CTNS GENE; END STAGE RENAL DISEASE; FEMALE; FOLLOW UP; GENE; GENE MAPPING; GENE MUTATION; HOMOZYGOSITY; HPSE2 GENE; HUMAN; HYDRONEPHROSIS; ICF 2 SYNDROME; KIDNEY DYSPLASIA; MALE; MONOGENIC DISORDER; NEUROGENIC BLADDER; OXALOSIS 1; POLYURIA; PRIORITY JOURNAL; RECESSIVE GENE; TRABOULSI SYNDROME; URINARY TRACT MALFORMATION; UROFACIAL SYNDROME 1; VESICOURETERAL REFLUX; WFS1 GENE; WHOLE EXOME SEQUENCING; ZBTB24 GENE; EXOME; GENETICS; MUTATION; PHENOTYPE; SYNDROME; UROGENITAL TRACT MALFORMATION;

EXOME; HUMANS; MUTATION; PHENOTYPE; SYNDROME; UROGENITAL ABNORMALITIES; VESICO-URETERAL REFLUX;

EID: 85015662914     PISSN: 10466673     EISSN: 15333450     Source Type: Journal    
DOI: 10.1681/ASN.2015080962     Document Type: Article

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