Diaphanospondylodysostosis: Six new cases and exclusion of the candidate genes, PAX1 and MEOX1

American Journal of Medical Genetics, Part A

Volumn 143, Issue 19, 2007, Pages 2292-2302

  Vatanavicharn, Nithiwat ^a   Graham Jr , John M ^a,b   Curry, Cynthia J ^c   Pepkowitz, Samuel ^b   Lachman, Ralph S ^a,b   Rimoin, David L ^a,b   Wilcox, William R ^a,b,d  

^a CEDARS SINAI MEDICAL CENTER   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UCLA School of Medicine ^*  (United States)

Author keywords

Diaphanospondylodysostosis; MEOX1; PAX1; Rib gaps; Vertebral segmentation

Indexed keywords

ARTICLE; AUTOPSY; CLINICAL ARTICLE; CLINICAL FEATURE; DIAPHANOSPONDYLODYSOSTOSIS; FEMALE; GENE; GENETIC LINKAGE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INFANT; MALE; MEOX1 GENE; NEWBORN; PATHOPHYSIOLOGY; PAX1 GENE; PRIORITY JOURNAL; SPINE RADIOGRAPHY; VERTEBRA MALFORMATION;

AGED, 80 AND OVER; BASE SEQUENCE; DNA; DNA PRIMERS; FEMALE; HUMANS; MALE; PAIRED BOX TRANSCRIPTION FACTORS; POLYMERASE CHAIN REACTION; SPONDYLOLYSIS; TRANSCRIPTION FACTORS;

MUS;

EID: 34848823157     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31934     Document Type: Article

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