A multiplex family with possible metaphyseal spahr-type dysplasia and exclusion of RMRP and COL10A1 as candidate genes

American Journal of Medical Genetics, Part A

Volumn 146, Issue 14, 2008, Pages 1865-1870

  Mégarbané, André ^a   Chouery, Eliane ^a   Ghanem, Ismat ^b  

^a SAINT JOSEPH UNIVERSITY   (Lebanon)

^b SAINT JOSEPH UNIVERSITY   (Lebanon)

Author keywords

Dysplasia; Genu varum; Metaphysis; Short stature

Indexed keywords

GENOMIC DNA;

ARTICLE; BONE RADIOGRAPHY; CASE REPORT; CHONDRODYSPLASIA; CLINICAL FEATURE; COL10A1 GENE; CONSANGUINEOUS MARRIAGE; FEMALE; FEMUR HEAD; FEMUR NECK; GENE; GENE SEQUENCE; HAPLOTYPE; HUMAN; ILIAC CREST; LEBANON; LEG MALFORMATION; LONG BONE; METAPHYSEAL SPAHR TYPE CHONDRODYSPLASIA; METAPHYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RMRP GENE; SCAPHOID BONE; SCHOOL CHILD; SEQUENCE ANALYSIS; SHORT STATURE; SYMPTOM; TRAPEZIUM BONE; TRAPEZOID BONE; VARUS KNEE;

ADULT; CHILD, PRESCHOOL; COLLAGEN; CONSANGUINITY; ENDORIBONUCLEASES; FEMALE; GENES, RECESSIVE; HAPLOTYPES; HUMANS; INFANT; MALE; OSTEOCHONDRODYSPLASIAS; PEDIGREE;

TRAPEZIUM;

EID: 47349114473     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32390     Document Type: Article

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