지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2010.1
- 수록면
- 444 - 446 (3page)
이용수
초록· 키워드
오류제보하기
Lowe syndrome is a rare genetic disease that appears to cause various clinical symptoms involving the eye, nervous system, and kidney. While a mutation of the OCRL1 gene is known to be responsible for this syndrome, the exact pathophysiology remains unclear. Various multi-organ symptoms are characteristic of Lowe syndrome, but skin lesions have rarely been described. Recently, mechanisms for the association of Lowe syndrome and skin lesions have been proposed. We report this case of Lowe syndrome involving multiple epidermal cysts on the scalp in a 6-year-old male child. (Ann Dermatol 22(4) 444∼446,2010)
목차
등록된 정보가 없습니다.
참고문헌 (13)
참고문헌 신청
Batirbaygil Y / 1999 / Lowe syndrome: case report / J Clin Pediatr Dent 23 : 357 ~ 359
Cho HY / 2008 / Renal manifestations of Dent disease and Lowe syndrome / Pediatr Nephrol 23 : 243 ~ 249
Choi BS / 2002 / Two cases of Lowe syndrome / J Korean Child Neurol Soc 10 : 374 ~ 377
Erdogan F / 2007 / Different seizure types and skin lesions in oculocerebrorenal syndrome of Lowe / J Child Neurol 22 : 427 ~ 431
Kim SW / 1999 / Two cases of oculocerebrorenal syndrome of Lowe / J Korean Pediatr Soc 42 : 419 ~ 423
Cho HY / 2008 / Renal manifestations of Dent disease and Lowe syndrome / Pediatr Nephrol 23 : 243 ~ 249
Choi BS / 2002 / Two cases of Lowe syndrome / J Korean Child Neurol Soc 10 : 374 ~ 377
Erdogan F / 2007 / Different seizure types and skin lesions in oculocerebrorenal syndrome of Lowe / J Child Neurol 22 : 427 ~ 431
Kim SW / 1999 / Two cases of oculocerebrorenal syndrome of Lowe / J Korean Pediatr Soc 42 : 419 ~ 423
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