CRISPLD2 variants including a C471T silent mutation may contribute to nonsyndromic cleft lip with or without cleft palate

Cleft Palate-Craniofacial Journal

Volumn 48, Issue 4, 2011, Pages 363-370

  Letra, Ariadne ^a   Menezes, Renato ^a   Cooper, Margaret E ^a   Fonseca, Renata F ^b   Tropp, Stephen ^a   Govil, Manika ^a   Granjeiro, Jose M ^c   Imoehl, Sandra R ^d   Mansilla, M Adela ^e   Murray, Jeffrey C ^e   Castilla, Eduardo E ^f   Orioli, Iêda M ^b   Czeizel, Andrew E ^g   Ma, Lian ^h   Chiquet, Brett T ⁱ   Hecht, Jacqueline T ⁱ   Vieira, Alexandre R ^a,j,k   Marazita, Mary L ^l,m,n  

^a UNIVERSITY OF PITTSBURGH   (United States)

^b FEDERAL UNIVERSITY OF RIO DE JANEIRO   (Brazil)

^c FLUMINENSE FEDERAL UNIVERSITY   (Brazil)

^d UNIVERSITY OF IOWA   (United States)

^e UNIVERSITY OF IOWA   (United States)

^f INSTITUTO OSWALDO CRUZ   (Brazil)

^g FOUNDATION FOR THE COMMUNITY CONTROL OF HEREDITARY DISEASES   (Hungary)

^h PEKING UNIVERSITY   (China)

ⁱ UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^j Center for Craniofacial and Dental Genetics   (United States)

^k UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

^l School of Dental Medicine   (United States)

^m Public Health   (United States)

ⁿ UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

more..

Author keywords

Cleft lip; Cleft palate; CRISPLD2 gene; Subphenotypes

Indexed keywords

CARRIER PROTEINS AND BINDING PROTEINS; CYSTEINE RICH SECRETORY PROTEIN LCCL DOMAIN CONTAINING 2; UNCLASSIFIED DRUG;

ARTICLE; BLOOD SAMPLING; BRAZILIAN; CAUCASIAN; CLEFT LIP; CLEFT PALATE; CLINICAL ASSESSMENT; CONTROLLED STUDY; CRANIOFACIAL DEVELOPMENT; ETHNIC GROUP; EXON; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC VARIABILITY; GENOTYPE; HISPANIC; HUMAN; MAJOR CLINICAL STUDY; NONSYNDROMIC CLEFT LIP; PATHOPHYSIOLOGY; PRIORITY JOURNAL; RNA SPLICING; SALIVA ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SOUTH AMERICA;

ADENINE; ALTERNATIVE SPLICING; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; CELL ADHESION MOLECULES; CLEFT LIP; CLEFT PALATE; COHORT STUDIES; CYTOSINE; ENHANCER ELEMENTS, GENETIC; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; GENE FREQUENCY; GENETIC VARIATION; GENOTYPE; GUANINE; HAPLOTYPES; HETEROZYGOTE; HISPANIC AMERICANS; HUMANS; INTERFERON REGULATORY FACTORS; LINKAGE DISEQUILIBRIUM; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; SP1 TRANSCRIPTION FACTOR; THYMINE; TRANSCRIPTION FACTOR AP-2;

EID: 79960466428     PISSN: 10556656     EISSN: 15451569     Source Type: Journal    
DOI: 10.1597/09-227     Document Type: Article

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