Schimke immuno-osseous dysplasia: A clinicopathological correlation

Journal of Medical Genetics

Volumn 44, Issue 2, 2007, Pages 122-130

  Clewing, J Marietta ^b   Antalfy, Barbara C ^b   Lücke, Thomas ^c   Najafian, Behzad ^d   Marwedel, Katja M ^c   Hori, Akira ^c   Powel, Ralph M ^d   Do, A F Safo ^d   Najera, Lydia ^d   SantaCruz, Karen ^d   Hicks, M John ^b   Armstrong, Dawna L ^b   Boerkoel, Cornelius F ^a,b  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c HANNOVER MEDICAL SCHOOL   (Germany)

^d UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MATRIX ASSOCIATED ACTIN DEPENDENT REGULATOR OF CHROMATIN SUBFAMILY A 1; PROTEIN SWI; REGULATOR PROTEIN; TRANSCRIPTION FACTOR SNF; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ANAMNESIS; ARTICLE; ATHEROSCLEROSIS; AUTOPSY; AUTOSOMAL RECESSIVE DISORDER; BONE DYSPLASIA; BRAIN ISCHEMIA; CHONDROGENESIS; CLINICAL FEATURE; CONTROLLED STUDY; CORRELATION ANALYSIS; FUNCTIONAL ASSESSMENT; GLOMERULOSCLEROSIS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LYMPHOID ORGAN; MALE; PRIORITY JOURNAL; SCHIMKE IMMUNO OSSEOUS DYSPLASIA; T LYMPHOCYTE;

ADOLESCENT; ADULT; ATHEROSCLEROSIS; AUTOPSY; BRAIN; CHONDROCYTES; DNA HELICASES; FATAL OUTCOME; FEMUR; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; LUNG; MALE; MUTATION; MYOCARDIUM; OSTEOCHONDRODYSPLASIAS; PITUITARY GLAND; T-LYMPHOCYTES; TESTIS;

EID: 33847262427     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2006.044313     Document Type: Article

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