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Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 2007, Volume 143A, Issue 8, pp. 799 - 807
Journal Article
Journal Article
Cutis, ISSN 0011-4162, 05/2002, Volume 69, Issue 5, pp. 383 - 386
Osteoma cutis (OC) is a rare disorder characterized by compact bone formation in the dermis and subcutaneous tissue. It is classified in primary and secondary... 
CUTIS | MINOCYCLINE | DERMATOLOGY | Skin Neoplasms - pathology | Osteoma - pathology | Ossification, Heterotopic - pathology | Humans | Middle Aged | Female | Aged | Facial Dermatoses - pathology
Journal Article
Pediatrics, ISSN 0031-4005, 2014, Volume 134, Issue 4, pp. e1149 - e1162
Journal Article
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, ISSN 0148-7299, 06/2003, Volume 119A, Issue 2, pp. 177 - 179
Recent publications described two patients with a CFC-like phenotype and the same deletion of chromosome region 12q21.2q22 [Rauen et al., 2000,2002]. The... 
12Q | CRYPTIC TELOMERIC REARRANGEMENTS | CFC syndrome | subtelomeric regions | MENTAL-RETARDATION | FACIO-CUTANEOUS SYNDROME | GENETICS & HEREDITY | chromosome 12 | CANDIDATE REGION | PHENOTYPE | cardiofaciocutaneous syndrome | IDENTIFICATION
Journal Article
Book Chapter
Human Mutation, ISSN 1059-7794, 07/2011, Volume 32, Issue 7, pp. 760 - 772
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 04/2009, Volume 17, Issue 4, pp. 420 - 425
Journal Article
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