X-Linked Spondyloepiphyseal Dysplasia Tarda: A Novel SEDL Mutation in a Jewish Ashkenazi Family and Clinical Intervention Considerations

American Journal of Medical Genetics

Volumn 125 A, Issue 1, 2004, Pages 45-48

  Bar Yosef, Udy ^a   Ohana, Eric ^a,b   Hershkovitz, Eli ^b   Perlmuter, Sarit ^a   Ofir, Rivka ^a   Birk, Ohad S ^a,b  

^a BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^b BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

Author keywords

Ashkenazi; Jewish; Mutation; SEDL; Spondyloepiphyseal dysplasia tarda; X linked

Indexed keywords

GENOMIC DNA; PROTEIN; PROTEIN SEDL; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CHILDHOOD; CLINICAL FEATURE; DISEASE COURSE; FAMILY; FEMALE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC SCREENING; HUMAN; IMAGE ANALYSIS; INFANT; JEW; MALE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RADIOGRAPHY; RELATIVE; SHORT STATURE; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; SPONDYLOEPIPHYSEAL DYSPLASIA; SPONDYLOEPIPHYSEAL DYSPLASIA TARDA; VERTEBRA BODY; X CHROMOSOME LINKED DISORDER;

EID: 0842305738     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20435     Document Type: Article

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