A Turkish family with Ellis-van Creveld syndrome in six siblings; linkage analysis on 4p16 region (D4S3360-D4S2366)

Genetic Counseling

Volumn 19, Issue 4, 2008, Pages 387-395

  Cagdas D N ^a   Parlar, A I ^a   Pac, A ^a   Tutun, U ^a   Pac, M ^a   Balci, And Sevim ^b,c  

^a Yuksek Ihtisas Heart Education and Research Hospital   (Turkey)

^b HACETTEPE UNIVERSITY   (Turkey)

^c NONE   (Turkey)

Author keywords

4p16; D4S3360 D4S2366; Ellis van Creveld (EVC) family; Endocardial cushion defect; Postaxial polydactyly; Syndactyly

Indexed keywords

ADULT; ARTICLE; ARTIFICIAL HEART PACEMAKER; ATRIOVENTRICULAR BLOCK; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CHROMOSOME 4P; CLINICAL ARTICLE; CYANOSIS; DYSPNEA; ELLIS VAN CREVELD SYNDROME; FATIGUE; FEMALE; HAPLOTYPE; HEART ATRIUM SEPTUM DEFECT; HEART PALPITATION; HOMOZYGOSITY; HUMAN; HYPODONTIA; LINKAGE ANALYSIS; MALE; NEWBORN DEATH; PEDIGREE ANALYSIS; PHENOTYPE; POLYDACTYLY; POSTOPERATIVE THROMBOSIS; PULMONARY VALVE STENOSIS; QRS COMPLEX; SHORT STATURE; SYNDACTYLY; TRANSTHORACIC ECHOCARDIOGRAPHY; TURKEY (REPUBLIC); VARUS KNEE;

ADOLESCENT; ALLELES; CHILD; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 4; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; ELLIS-VAN CREVELD SYNDROME; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; MALE; PEDIGREE; PHENOTYPE; POLYMORPHISM, GENETIC; TURKEY;

EID: 59849127944     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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