Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: Expanding the spectrum of PRPS1-related disorders

European Journal of Human Genetics

Volumn 23, Issue 3, 2015, Pages 310-316

  Al Maawali, Almundher ^a,b   Dupuis, Lucie ^a   Blaser, Susan ^a   Heon, Elise ^a   Tarnopolsky, Mark ^c   Al Murshedi, Fathiya ^b   Marshall, Christian R ^d,e   Paton, Tara ^d,e   Scherer, Stephen W ^d,e   Roelofsen, Jeroen ^f   Van Kuilenburg, André B P ^f   Mendoza Londono, Roberto ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b SULTAN QABOOS UNIVERSITY HOSPITAL   (Oman)

^c MCMASTER UNIVERSITY   (Canada)

^d HOSPITAL FOR SICK CHILDREN   (Canada)

^e UNIVERSITY OF TORONTO   (Canada)

^f ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE; ADENYLOSUCCINIC ACID; ALPHA FETOPROTEIN; DEOXYINOSINE; GUANOSINE DIPHOSPHATE; GUANOSINE TRIPHOSPHATE; HYPOXANTHINE; INOSINE; NUCLEOTIDE; OROTIC ACID; PURINE DERIVATIVE; UNCLASSIFIED DRUG; URIC ACID; PRPS1 PROTEIN, HUMAN; RIBOSEPHOSPHATE PYROPHOSPHOKINASE;

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; COLOBOMA; DIABETES INSIPIDUS; DISORDERS OF PURINE AND PYRIMIDINE METABOLISM; ERYTHROCYTE; EXOME SEQUENCING; FACE DYSMORPHIA; FOLLOW UP; GENE; GENE FUNCTION; GENETIC ASSOCIATION; HUMAN; HUMAN CELL; INHERITANCE; INTELLECTUAL IMPAIRMENT; INTRAUTERINE GROWTH RETARDATION; LEBER CONGENITAL AMAUROSIS; LOSS OF FUNCTION MUTATION; MALE; MATERNAL BLOOD; MISSENSE MUTATION; MULTIFACTORIAL GENETIC DISORDER; PHENOTYPE; PHOSPHORIBOSYL PYROPHOSPHATE SYNTHETASE 1 DEFICIENCY SYNDROME; PHOSPHORIBOSYL PYROPHOSPHATE SYNTHETASE 1 GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; QUADRIPLEGIA; RETINA DYSTROPHY; SANGER SEQUENCING; SCHOOL CHILD; SEQUENCE ANALYSIS; SHORT STATURE; SINGLE NUCLEOTIDE POLYMORPHISM; SPASTICITY; URIC ACID BLOOD LEVEL; URINALYSIS; WHITE MATTER LESION; BRAIN; ELECTROCARDIOGRAPHY; EXOME; FACIES; FETAL GROWTH RETARDATION; GENETICS; HIGH THROUGHPUT SEQUENCING; LEUKOENCEPHALOPATHIES; MUTATION; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PEDIGREE; RETINAL DYSTROPHIES; SYNDROME;

BRAIN; CHILD; CHILD, PRESCHOOL; DIABETES INSIPIDUS; ELECTROCARDIOGRAPHY; EXOME; FACIES; FETAL GROWTH RETARDATION; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT, NEWBORN; LEUKOENCEPHALOPATHIES; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; PEDIGREE; PHENOTYPE; RETINAL DYSTROPHIES; RIBOSE-PHOSPHATE PYROPHOSPHOKINASE; SYNDROME;

EID: 84931825022     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.112     Document Type: Article

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