지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2019.1
- 수록면
- 232 - 234 (3page)
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초록· 키워드
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Dear Editor, Pallister–Killian syndrome (PKS; OMIM#601803) is characterized by specific craniofacial dysmorphism, pigmentary skin anomalies, limb differences, congenital heart defects, hypotonia, intellectual disabilities, and epilepsy. PKS is caused by the presence of extra copies of the short arm of chromosome 12, which most commonly presents as supernumerary marker isochromosome 12p [i(12p)], resulting in 12p tetrasomy [1].
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등록된 정보가 없습니다.
참고문헌 (9)
참고문헌 신청
Schinzel A / 1991 / Tetrasomy 12p(Pallister-Killian syndrome) / J Med Genet 28:122~125
Izumi K / 2012 / Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region / Am J Med Genet A 158A:3033~3045
Tang W / 2005 / Cell death as a possible mechanism for tissue limited mosaicism in Pallister-Killian syndrome / J Assoc Genet Technol 31:168~169
Peltomäki P / 1987 / Pallister-Killian syndrome : cytogenetic and molecular studies / Clin Genet 31:399~405
Reeser SL / 1992 / Failure of PHA-stimulated i(12p)lymphocytes to divide in Pallister-Killian syndrome / Am J Med Genet 42:815~819
Izumi K / 2012 / Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region / Am J Med Genet A 158A:3033~3045
Tang W / 2005 / Cell death as a possible mechanism for tissue limited mosaicism in Pallister-Killian syndrome / J Assoc Genet Technol 31:168~169
Peltomäki P / 1987 / Pallister-Killian syndrome : cytogenetic and molecular studies / Clin Genet 31:399~405
Reeser SL / 1992 / Failure of PHA-stimulated i(12p)lymphocytes to divide in Pallister-Killian syndrome / Am J Med Genet 42:815~819
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