Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis?

American Journal of Medical Genetics, Part A

Volumn 143, Issue 24, 2007, Pages 2973-2980

  Moog, Ute ^a,b,c   Roelens, Filip ^d   Mortier, Geert R ^e   Sijstermans, Han ^f   Kelly, Mary ^g   Cox, Gerald F ^g,h   Robson, Caroline D ^g,h   Kimonis, Virginia E ^g,h,i  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MAASTRICHT UNIVERSITY   (Netherlands)

^c UNIVERSITY OF HEIDELBERG   (Germany)

^d Heilig Hart Ziekenhuis   (Belgium)

^e GHENT UNIVERSITY HOSPITAL   (Belgium)

^f Zuyderland Medical Centre   (Netherlands)

^g BOSTON CHILDREN S HOSPITAL   (United States)

^h HARVARD MEDICAL SCHOOL   (United States)

ⁱ UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Alopecia; Benign mesenchymal tumors; Coarctation of the aorta; Epibulbar dermoids; Hyperpigmentation; Lines of Blaschko; Mental retardation; Nevus psiloliparus; Non ossifying fibroma; Oculoectodermal syndrome; Periocular skin tags; Vascular dysplasia

Indexed keywords

ANAMNESIS; AORTA COARCTATION; BONE CYST; BONE LESION; BRAIN MALFORMATION; CASE REPORT; CHILD; CHROMOSOME ANALYSIS; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONFERENCE PAPER; CONGENITAL SKIN DISEASE; DISEASE COURSE; ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS; EYE MALFORMATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; HUMAN; HUMAN TISSUE; MALE; PHAKOMATOSIS; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; BONE AND BONES; BONE DISEASES; CENTRAL NERVOUS SYSTEM DISEASES; CHILD; CHILD, PRESCHOOL; CYSTS; EYE DISEASES; FATAL OUTCOME; HUMANS; LIPOMATOSIS; MALE; MESODERM; MOSAICISM; NEUROCUTANEOUS SYNDROMES; SKIN DISEASES;

EID: 37249048873     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31957     Document Type: Conference Paper

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