Further insight into the phenotype associated with a mutation in the ORC6 gene, causing Meier-Gorlin syndrome 3

American Journal of Medical Genetics, Part A

Volumn 167, Issue 3, 2015, Pages 607-611

  Shalev, Stavit Allon ^a,b   Khayat, Morad ^b   Etty, Daniel Spiegl ^a   Elpeleg, Orly ^c  

^a HAEMEK MEDICAL CENTER   (Israel)

^b TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^c HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

Exome sequencing; Meier Gorlin syndrome; Phenotype genotype correlation

Indexed keywords

GENOMIC DNA; ORIGIN RECOGNITION COMPLEX;

ARTICLE; BONE DYSPLASIA; CASE REPORT; CLUBFOOT; DEVELOPMENTAL DISORDER; DEVELOPMENTAL GENE; EMBRYO DEVELOPMENT; EXOME; FAMILY HISTORY; FEMALE; FETUS; FETUS AKINESIA; FETUS DISEASE; GENE DELETION; GENE EXPRESSION; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC PROCEDURES; GRACILE BONE DYSPLASIA; HOMOZYGOSITY; HUMAN; INTRAUTERINE GROWTH RETARDATION; KNEE DISLOCATION; MANDIBLE HYPOPLASIA; MEIER GORLIN SYNDROME; MULTIPLE MALFORMATION SYNDROME; MUTATIONAL ANALYSIS; ORC6 GENE; PHENOTYPE; SANGER SEQUENCE; SINGLE NUCLEOTIDE POLYMORPHISM; THORAX MALFORMATION; CONGENITAL MALFORMATION; CONGENITAL MICROTIA; CONSANGUINITY; FETUS ECHOGRAPHY; GENETIC ASSOCIATION STUDY; GENETICS; GENOTYPE; GROWTH DISORDERS; HIGH THROUGHPUT SEQUENCING; MALE; MICROGNATHISM; MUTATION; PATELLA; PEDIGREE;

CONGENITAL MICROTIA; CONSANGUINITY; EXOME; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; GROWTH DISORDERS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MICROGNATHISM; MUTATION; ORIGIN RECOGNITION COMPLEX; PATELLA; PEDIGREE; PHENOTYPE; ULTRASONOGRAPHY, PRENATAL;

EID: 84922978458     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36906     Document Type: Article

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