D H Siegel
Affiliation: Medical College of Wisconsin
- Copy number variation analysis in 98 individuals with PHACE syndromeDawn H Siegel
Department of Dermatology, Medical College of Wisconsin, Milwaukee, Wisconsin 53226, USA
J Invest Dermatol 133:677-84. 2013..32, 12q24.13, 17q11.2, 18p11.31, and Xq28. There were no rare CNV events that occurred in more than one subject. Therefore, further study is needed to determine the significance of these CNVs in the pathogenesis of PHACE syndrome...
- Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in developmentD H Siegel
Department of Dermatology and Pediatrics, Medical College of Wisconsin, 8701 Watertown Plank Road TBRC, 2nd Floor, Suite C2010, Milwaukee, WI 53226, USA
Br J Dermatol 166:601-7. 2012..Costello syndrome (CS) is a RASopathy caused by mutations in the HRAS gene, a key regulator of signal transduction...
- Stroke in children with posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities (PHACE) syndrome: a systematic review of the literatureDawn H Siegel
Department of Dermatology, Medical College of Wisconsin, Milwaukee, WI 53226, USA
Stroke 43:1672-4. 2012..The objective of this article is to review all cases of stroke in PHACE in children and describe clinical characteristics that may be associated with an increased risk of AIS...
- Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndromeD H Siegel
Department of Dermatology and Pediatrics, Oregon Health and Science University, Portland, USA
Br J Dermatol 164:521-9. 2011..Cardiofaciocutaneous (CFC) syndrome is characterized by distinctive craniofacial features, congenital heart defects, and abnormalities of the skin and hair...