Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families

Prenatal Diagnosis

Volumn 29, Issue 6, 2009, Pages 560-569

  Chang, Wendy ^a   Winder, Thomas L ^b,c   LeDuc, Charles A ^a   Simpson, Lynn L ^a   Millar, William S ^a   Dungan, Jeffrey ^d   Ginsberg, Norman ^d   Plaga, Stacey ^d   Moore, Steven A ^b   Chung, Wendy K ^a,e  

^a Department of Medicine   (United States)

^b UNIVERSITY OF IOWA   (United States)

^c Prevention Genetics   (United States)

^d NORTHWESTERN UNIVERSITY   (United States)

^e NONE   (United States)

Author keywords

Genetic screening; Muscle eye brain disease

Indexed keywords

ALPHA DYSTROGLYCAN; FUKUTIN; FUKUTIN RELATED PROTEIN; MANNOSYLTRANSFERASE; O MANNOSE BETA 1,2 N ACETYLGLUCOSAMINYLTRANSFERASE; PROTEIN O MANNOSYLTRANSFERASE 1; PROTEIN O MANNOSYLTRANSFERASE 2; TRANSFERASE; UNCLASSIFIED DRUG;

ARTICLE; BRAIN VENTRICLE PERITONEUM SHUNT; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FAMILY HISTORY; FEMALE; FETUS; FETUS DEATH; FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; GENE MUTATION; GENETIC ANALYSIS; GESTATIONAL AGE; HAPLOTYPE; HETEROZYGOTE DETECTION; HUMAN; HYDROCEPHALUS; INFANT; JEW; MALE; NEWBORN; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; WALKER WARBURG SYNDROME;

ADULT; BRAIN; CHILD, PRESCHOOL; EXONS; FATAL OUTCOME; FEMALE; HAPLOTYPES; HUMANS; INFANT; INFANT, NEWBORN; JEWS; MALE; MEMBRANE PROTEINS; MUSCULAR DYSTROPHIES; MUTATION; PEDIGREE; PREGNANCY; SYNDROME; ULTRASONOGRAPHY, PRENATAL;

EID: 67049155979     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.2238     Document Type: Article

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