Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndrome

European Journal of Medical Genetics

Volumn 55, Issue 2, 2012, Pages 103-108

  Mehawej, Cybel ^a   Chouery, Eliane ^a   Maalouf, Diane ^a   Baujat, Geneviève ^b   Le Merrer, Martine ^b   Cormier Daire, Valérie ^b   Mégarbané, André ^a  

^a SAINT JOSEPH UNIVERSITY   (Lebanon)

^b INSERM   (France)

Author keywords

Autosomal recessive; Bone dysplasia; Gene; Robinow syndrome; ROR2

Indexed keywords

RECEPTOR PROTEIN; RECEPTOR TYROSINE KINASE LIKE ORPHAN RECEPTOR 2; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; BRACHYDACTYLY; CASE REPORT; CLINODACTYLY; FACE DYSMORPHIA; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HAND MALFORMATION; HUMAN; HYPERTELORISM; LOW SET EAR; MACROCEPHALY; MISSENSE MUTATION; PALPEBRAL FISSURE ANOMALY; POLYDACTYLY; PROTEIN DOMAIN; ROBINOW SYNDROME; SHORT STATURE; SYNDACTYLY;

CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INFANT; LEBANON; LIMB DEFORMITIES, CONGENITAL; MALE; MAXILLOFACIAL ABNORMALITIES; MUTATION; PEDIGREE; RECEPTOR TYROSINE KINASE-LIKE ORPHAN RECEPTORS; SPINE;

EID: 84857440383     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.11.003     Document Type: Article

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