Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes

Clinical Genetics

Volumn 86, Issue 2, 2014, Pages 142-148

  Weh, E ^a,b   Reis, L M ^a   Tyler, R C ^a   Bick, D ^a   Rhead, W J ^a   Wallace, S ^c   Mcgregor, T L ^d   Dills, S K ^e   Chao, M C ^f,g   Murray, J C ^h   Semina, E V ^a,b  

^a Department of Pediatrics Children's Research Institute Medical College of Wisconsin Children's Hospital of Wisconsin ^*  (United States)

^b MEDICAL COLLEGE OF WISCONSIN   (United States)

^c SEATTLE CHILDREN S HOSPITAL   (United States)

^d MONROE CARELL JR CHILDREN S HOSPITAL AT VANDERBILT   (United States)

^e CAROLINAS MEDICAL CENTER   (United States)

^f KAOHSIUNG MEDICAL UNIVERSITY   (Taiwan)

^g KAOHSIUNG MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^h UNIVERSITY OF IOWA   (United States)

Author keywords

B3GALTL; Glucosyltransferase; Mutation; Peters plus syndrome

Indexed keywords

ASPARTIC ACID; GLUTAMINE; GLYCINE; NUCLEOTIDE; PROTEIN; PROTEIN B3GALTL; UNCLASSIFIED DRUG; B3GALTL PROTEIN, HUMAN; GALACTOSYLTRANSFERASE; GLUCOSYLTRANSFERASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRACHYDACTYLY; COLOBOMA; CONTROLLED STUDY; COPY NUMBER VARIATION; FRAMESHIFT MUTATION; GENE FREQUENCY; GENE MUTATION; HOMOZYGOTE; HUMAN; IRIS COLOBOMA; MAJOR CLINICAL STUDY; MEDICAL DOCUMENTATION; MICROPHTHALMIA; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PETERS ANOMALY; PETERS PLUS SYNDROME; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; SHORT STATURE; CLEFT LIP; COHORT ANALYSIS; CORNEA; FEMALE; GENETIC ASSOCIATION; GENETICS; GROWTH DISORDER; LIMB MALFORMATION; MALE; MUTATION;

CLEFT LIP; COHORT STUDIES; CORNEA; FEMALE; GALACTOSYLTRANSFERASES; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GLUCOSYLTRANSFERASES; GROWTH DISORDERS; HUMANS; LIMB DEFORMITIES, CONGENITAL; MALE; MUTATION; PHENOTYPE;

EID: 84904703878     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12241     Document Type: Article

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