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[HTML][HTML] Severe hypothyroidism caused by type 3 iodothyronine deiodinase in infantile hemangiomas

…, M Venihaki, AJ Butte, HPW Kozakewich… - … England Journal of …, 2000 - Mass Medical Soc
Hemangiomas are the most common tumors of infancy, with a prevalence of 5 to 10 percent
among one-year-olds. They are characterized by rapid growth in the first year of life, …

[PDF][PDF] Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome

…, ME Bowen, GL Yamamoto, HPW Kozakewich… - The American Journal of …, 2012 - cell.com
Congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies (CLOVES)
is a sporadically occurring, nonhereditary disorder characterized by asymmetric somatic …

Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA

…, AK Greene, SJ Fishman, HPW Kozakewich… - The Journal of …, 2015 - Elsevier
Objectives To test the hypothesis that somatic phosphatidylinositol-4,5-bisphospate 3-kinase,
catalytic subunit alpha (PIK3CA) mutations would be found in patients with more common …

Soft-tissue vascular anomalies: utility of US for diagnosis

HJ Paltiel, PE Burrows, HPW Kozakewich… - Radiology, 2000 - pubs.rsna.org
PURPOSE: To determine the ultrasonographic (US) features that distinguish soft-tissue
hemangioma from vascular malformation and one type of malformation from another. …

Thrombocytopenic coagulopathy (Kasabach-Merritt phenomenon) is associated with Kaposiform hemangioendothelioma and not with common infantile hemangioma

M Sarkar, JB Mulliken, HPW Kozakewich… - Plastic and …, 1997 - journals.lww.com
: Children with a large vascular tumor and associated Kasabach-Merritt coagulopathy respond
inconsistently to therapy and have a high mortality rate. For this reason, we undertook a …

Rapidly involuting congenital hemangioma: clinical and histopathologic features

…, AR Perez-Atayde, HPW Kozakewich - Pediatric and …, 2003 - Springer
We define the histopathologic findings and review the clinical and radiologic characteristics
of rapidly involuting congenital hemangioma (RICH). The features of RICH are compared to …

Noninvoluting congenital hemangioma: a rare cutaneous vascular anomaly

…, LM Boon, M Wassef, HPW Kozakewich… - Plastic and …, 2001 - journals.lww.com
The authors studied a rare, congenital, cutaneous vascular anomaly that grows proportionately
with the child and does not regress. A total of 53 patients were compiled from three …

Venous malformations of skeletal muscle

KD Hein, JB Mulliken, HPW Kozakewich… - Plastic and …, 2002 - journals.lww.com
: Intramuscular venous malformations are often mistaken for tumors because of a similar
presentation and improper nomenclature. This is a review of 176 patients with venous …

Lethal neonatal deficiency of carnitine palmitoyltransferase II associated with dysgenesis of the brain and kidneys

…, CL Hoppel, U De Girolami, HPW Kozakewich… - The Journal of …, 1995 - Elsevier
We describe neonatal onset of a lethal multiorgan deficiency of carnitine palmitoyltransferase
II (CPT II) associated with dysmorphic features, cardiomyopathy, and cystic dysplasia of the …

[PDF][PDF] Somatic activating mutations in GNAQ and GNA11 are associated with congenital hemangioma

…, SJ Fishman, TK Boyd, HPW Kozakewich… - The American Journal of …, 2016 - cell.com
Congenital hemangioma is a rare vascular tumor that forms in utero. Postnatally, the tumor
either involutes quickly (ie, rapidly involuting congenital hemangioma [RICH]) or partially …
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