Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates

BMC Medical Genetics

Volumn 11, Issue 1, 2010, Pages

  Ali, Bassam R ^a   Akawi, Nadia A ^a   Chedid, Faris ^b   Bakir, Mahmood ^c   Ur Rehman, Moghis ^b   Rahmani, Aiman ^b   Al Gazali, Lihadh ^a  

^a UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^b TAWAM HOSPITAL   (United Arab Emirates)

^c AL AIN HOSPITAL   (United Arab Emirates)

Author keywords

[No Author keywords available]

Indexed keywords

ABDOMINAL DISTENSION; ARTICLE; ARTIFICIAL VENTILATION; BIRTH WEIGHT; BODY HEIGHT; CASE REPORT; CHEST INFECTION; CHILD; CHILD DEATH; CLINICAL ARTICLE; DNA SEQUENCE; ECHOCARDIOGRAPHY; ELLIS VAN CREVELD SYNDROME; EXON; FEMALE; GENE DELETION; GENE FREQUENCY; GENETIC ASSOCIATION; HEAD CIRCUMFERENCE; HEART ATRIUM SEPTUM DEFECT; HEART DILATATION; HEPATOMEGALY; HETEROZYGOSITY; HUMAN; INTENSIVE CARE; INTRON; LUNG HYPOPLASIA; MISSENSE MUTATION; NAIL HYPOPLASIA; NUCLEOTIDE SEQUENCE; POLYDACTYLY; POLYMERASE CHAIN REACTION; PROMOTER REGION; PULMONARY HYPERTENSION; RESPIRATORY TRACT DISEASE; RNA SPLICING; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SPONTANEOUS ABORTION; UNITED ARAB EMIRATES; CHROMOSOME MAP; GENETICS; GENOTYPE; MOLECULAR GENETICS; MUTATION; PATHOLOGY; PEDIGREE; PHENOTYPE;

EVC PROTEIN, HUMAN; EVC2 PROTEIN, HUMAN; PROTEIN;

BASE SEQUENCE; CHROMOSOME MAPPING; DNA MUTATIONAL ANALYSIS; ELLIS-VAN CREVELD SYNDROME; GENOTYPE; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; PROTEINS; UNITED ARAB EMIRATES;

EID: 77951838968     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-11-33     Document Type: Article

References (14)

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