Confirmation of existence of a new syndrome: LAPS syndrome

American Journal of Medical Genetics

Volumn 109, Issue 2, 2002, Pages 93-99

  Lindor, Noralane M ^a   Kasperbauer, Jan L ^a   Hoffman, Alan D ^a   Parisi, Joseph E ^a   Wang, Hongwei ^b   Warman, Matthew ^b  

^a MAYO CLINIC   (United States)

^b CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Fibrosis; Pericardium; Short stature; Tracheal stenosis

Indexed keywords

ADULT; ARTHROPATHY; ARTICLE; CASE REPORT; CLINICAL EXAMINATION; FEMALE; HAND RADIOGRAPHY; HUMAN; LARYNX STENOSIS; MALFORMATION SYNDROME; PERICARDIUM; PRIORITY JOURNAL; PROGNATHIA; SHORT STATURE; SKULL RADIOGRAPHY; SYNDROME DELINEATION; TRACHEA STENOSIS;

ABNORMALITIES, MULTIPLE; ADULT; FEMALE; GROWTH DISORDERS; HUMANS; JOINT DISEASES; KARYOTYPING; LARYNGOSTENOSIS; PROGNATHISM; SYNDROME; TRACHEAL STENOSIS;

EID: 0037156291     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10316     Document Type: Article

References (2)

1. Progressive laryngotracheal stenosis with short stature and arthropathy
2. CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome