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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2019.1
- 수록면
- 395 - 398 (4page)
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초록· 키워드
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Genitopatellar syndrome (GPS) is a rare disorder characterized by patellar hypoplasia, flexion contractures of the lower limbs,psychomotor retardation and genital and renal anomalies. We report the case of a female infant diagnosed with GPS to a KAT6Bgene mutation, which was identified using whole exome sequencing.
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참고문헌 (9)
참고문헌 신청
Campeau PM / 2012 / Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome / Am J Hum Genet 90:282~289
Cormier-Daire V / 2000 / Genitopatellar syndrome : a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation / J Med Genet 37:520~524
Simpson MA / 2012 / De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome / Am J Hum Genet 90:290~294
Lonardo F / 2019 / Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: lumping or splitting? / Clin Genet 95:253~261
Verloes A / 2006 / Blepharophimosis-mental retardation(BMR)syndromes : a proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one Xlinked and one autosomal recessive / Am J Med Genet A 140:1285~1296
Cormier-Daire V / 2000 / Genitopatellar syndrome : a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation / J Med Genet 37:520~524
Simpson MA / 2012 / De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome / Am J Hum Genet 90:290~294
Lonardo F / 2019 / Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: lumping or splitting? / Clin Genet 95:253~261
Verloes A / 2006 / Blepharophimosis-mental retardation(BMR)syndromes : a proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one Xlinked and one autosomal recessive / Am J Med Genet A 140:1285~1296
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