A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum

Clinical Genetics

Volumn 78, Issue 3, 2010, Pages 275-281

  van Reeuwijk, J ^a   Olderode Berends, M J W ^b   van den Elzen, C ^a   Brouwer, O F ^b   Roscioli, T ^a   van Pampus, M G ^b   Scheffer, H ^a   Brunner, H G ^a   van Bokhoven, H ^a,c   Hol, F A ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^c RADBOUD UNIVERSITY   (Netherlands)

Author keywords

Cobblestone lissencephaly; Dystroglycan; Fkrp; Fukutin related protein; O linked glycosylation; Start codon mutation; Walker; Warburg syndrome

Indexed keywords

DYSTROPHIN; FUKUTIN RELATED PROTEIN; GLYCOSYLTRANSFERASE;

ARTICLE; BRAIN MALFORMATION; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; CLINICAL FEATURE; DEATH; DISEASE SEVERITY; ENCEPHALOCELE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; HUMAN; HYDROCEPHALUS; IMMUNOHISTOCHEMISTRY; INFANT; LIMB GIRDLE MUSCULAR DYSTROPHY; MENTAL DEFICIENCY; MICROPHTHALMIA; MUSCULAR DYSTROPHY; MUTATIONAL ANALYSIS; MYOPIA; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; RETINA MALFORMATION; SIBLING; START CODON; WALKER WARBURG SYNDROME;

BASE SEQUENCE; CODON, INITIATOR; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; FEMALE; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MUTATION; PEDIGREE; PROTEINS; SEVERITY OF ILLNESS INDEX; SIBLINGS; WALKER-WARBURG SYNDROME;

EID: 77955805252     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01384.x     Document Type: Article

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