Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome

Journal of Medical Genetics

Volumn 52, Issue 6, 2015, Pages 381-390

  Ben Omran, Tawfeg ^a   Fahiminiya, Somayyeh ^b,c   Sorfazlian, Natalie ^d   Almuriekhi, Mariam ^a   Nawaz, Zafar ^a   Nadaf, Javad ^b,c   Khadija, Kitam Abu ^a   Zaineddin, Samiha ^a   Kamel, Hussein ^a   Majewski, Jacek ^b,c   Tropepe, Vincent ^d,e  

^a HAMAD MEDICAL CORPORATION   (Qatar)

^b MCGILL UNIVERSITY   (Canada)

^c MCGILL UNIVERSITY   (Canada)

^d UNIVERSITY OF TORONTO   (Canada)

^e UNIVERSITY OF TORONTO   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ALBUMIN; AMINO ACID; PROTEIN; PROTEIN WDR73; UNCLASSIFIED DRUG; STOP CODON; WDR73 PROTEIN, HUMAN;

ADULT; ANIMAL EXPERIMENT; ANIMAL MODEL; ARAB; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN DEVELOPMENT; BRAIN GROWTH; CASE REPORT; CEREBELLUM; CEREBELLUM HYPOPLASIA; CHILD; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; CONVULSION; DEVELOPMENTAL DISORDER; DNA SEQUENCE; EMBRYO; EPICANTHUS; EXOME; FEMALE; GALLOWAY MOWAT SYNDROME; GENE EXPRESSION; GENE FREQUENCY; GENE LOCUS; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; HYPERTELORISM; HYPOALBUMINEMIA; HYPOCALCEMIA; INHERITANCE; INTELLECTUAL IMPAIRMENT; MALE; MESENCEPHALON; MORPHOGENESIS; MUSCLE ATROPHY; MUSCLE HYPOTONIA; NEPHROSIS; NERVE CELL DIFFERENTIATION; NONHUMAN; NONSENSE MUTATION; PES EQUINUS; PHENOTYPE; PRIORITY JOURNAL; QUADRIPLEGIA; SCHOOL CHILD; SIBLING; STRABISMUS; ZEBRA FISH; ANIMAL; BIOLOGY; BRAIN; CONSANGUINITY; GENE SILENCING; GENETIC ASSOCIATION STUDY; GENETICS; GENOME-WIDE ASSOCIATION STUDY; HERNIA, HIATAL; HIGH THROUGHPUT SEQUENCING; HOMOZYGOTE; MICROCEPHALY; NERVOUS SYSTEM DEVELOPMENT; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEIC ACID DATABASE; PATHOLOGY; PEDIGREE; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON; TRANSGENIC ANIMAL;

DANIO RERIO;

ANIMALS; ANIMALS, GENETICALLY MODIFIED; BRAIN; CEREBELLUM; CODON, NONSENSE; COMPUTATIONAL BIOLOGY; CONSANGUINITY; DATABASES, NUCLEIC ACID; EXOME; GENE EXPRESSION; GENE KNOCKDOWN TECHNIQUES; GENETIC ASSOCIATION STUDIES; GENOME-WIDE ASSOCIATION STUDY; HERNIA, HIATAL; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HOMOZYGOTE; HUMANS; MAGNETIC RESONANCE IMAGING; MICROCEPHALY; NEPHROSIS; NEUROGENESIS; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEINS; ZEBRAFISH;

EID: 84930668843     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2014-102707     Document Type: Article

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