Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome

Journal of Pediatric Urology

Volumn 7, Issue 5, 2011, Pages 569-573

  Al Badr, Wisam ^a   Al Bader, Suha ^b   Otto, Edgar ^c   Hildebrandt, Friedhelm ^c   Ackley, Todd ^c   Peng, Weiping ^c   Xu, Jishu ^c   Li, Jun ^c   Owens, Kailey M ^c   Bloom, David ^c   Innis, Jeffrey W ^c  

^a IMAM ABDULRAHMAN BIN FAISAL UNIVERSITY   (Saudi Arabia)

^b Division of Radiology   (South Africa)

^c UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

HPSE2 mutation; Neurogenic bladder; Ochoa syndrome; Urofacial syndrome

Indexed keywords

ALANINE; NUCLEOTIDE;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CHILD; CHROMOSOME 10Q; CONSANGUINEOUS MARRIAGE; EARLY DIAGNOSIS; EXOME; FACIAL EXPRESSION; FACIES; FEMALE; FRAMESHIFT MUTATION; GENE; GENE MAPPING; GENE MUTATION; HOMOZYGOSITY; HPSE2 GENE; HUMAN; KIDNEY FAILURE; NEUROGENIC BLADDER; NUCLEOTIDE SEQUENCE; PATIENT MONITORING; PRIORITY JOURNAL; RISK MANAGEMENT; SAUDI ARABIA; SEQUENCE ANALYSIS; SYNDROME OCHOA; VESICOURETERAL REFLUX;

CHILD; CHROMOSOME MAPPING; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; EXOME; FACIES; FEMALE; FOLLOW-UP STUDIES; GLUCURONIDASE; HOMOZYGOTE; HUMANS; MUTATION; PEDIGREE; SAUDI ARABIA; UROLOGIC DISEASES;

EID: 80052925192     PISSN: 14775131     EISSN: 18734898     Source Type: Journal    
DOI: 10.1016/j.jpurol.2011.02.034     Document Type: Article

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