Aberrant Pax1 and Pax9 expression in Jarcho-Levin syndrome: Report of two Caucasian siblings and literature review

American Journal of Medical Genetics

Volumn 120 A, Issue 2, 2003, Pages 241-246

  Bannykh, Sergei I ^a   Emery, Shawn Clark ^a   Gerber, Josef Karl ^c   Jones, Kenneth L ^a   Benirschke, Kurt ^a   Masliah, Eliezer ^a,b,d  

^a UCSD MEDICAL CENTER   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c INSTITUTE OF EPIDEMIOLOGY   (Germany)

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Casamassima; Dysostosis; Dysplasia; Jarcho Levin; Pax; Segmentation defects; Spondylocostal; Spondylothoracic; Vertebrae

Indexed keywords

HOMEODOMAIN PROTEIN; MONOCLONAL ANTIBODY; PROTEIN PAX1; TRANSCRIPTION FACTOR PAX9; UNCLASSIFIED DRUG;

AUTOPSY; CARTILAGE CELL; CASAMASSIMA MORTON NANCE SYNDROME; CASE REPORT; CAUCASIAN; CONTROLLED STUDY; FETUS; GESTATIONAL AGE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; JARCHO LEVIN SYNDROME; KIDNEY ANOMALY; MALE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; REVIEW; RIB MALFORMATION; SIBLING; THORACIC SPINE; VERTEBRA MALFORMATION; WESTERN BLOTTING;

ABNORMALITIES, MULTIPLE; ADULT; DNA-BINDING PROTEINS; DYSOSTOSES; FEMALE; FETAL DEATH; HUMANS; KIDNEY; MALE; MUSCULOSKELETAL ABNORMALITIES; OSTEOCHONDRODYSPLASIAS; PEDIGREE; PREGNANCY; SIBLINGS; SYNDROME; THORACIC VERTEBRAE; ULTRASONOGRAPHY, PRENATAL;

DECAPODA (CRUSTACEA);

EID: 0042322955     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

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