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Volumn 18, Issue 4, 2009, Pages 215-217

Further evidence of dominant inheritance of Kabuki syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; BRACHYDACTYLY; CASE REPORT; CHILD; CLEFT PALATE; CLINICAL FEATURE; CLINODACTYLY; DEVELOPMENTAL DISORDER; ECTROPION; FEMALE; FUNNEL CHEST; GENE MUTATION; HUMAN; JOINT LAXITY; KABUKI MAKEUP SYNDROME; KYPHOSIS; MICROCEPHALY; MULTIPLE MALFORMATION SYNDROME; MUSCLE HYPOTONIA; NAIL HYPOPLASIA; NEPHROLITHIASIS; PRIORITY JOURNAL; SCOLIOSIS; SHORT STATURE; STRABISMUS; SYNDROME DELINEATION; CHROMOSOME ANALYSIS; DOMINANT GENE; GENETICS; INFANT; INHERITANCE; NEWBORN; PREGNANCY; PRESCHOOL CHILD; SYNDROME;

EID: 70449715727     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e32832c012e     Document Type: Article
Times cited : (3)

References (6)
  • 2
    • 0019837311 scopus 로고
    • A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation
    • Kuroki Y, Suzuki Y, Chyo H, Hata A, Matsui I (1981). A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. J Pediatr 99:570-573.
    • (1981) J Pediatr , vol.99 , pp. 570-573
    • Kuroki, Y.1    Suzuki, Y.2    Chyo, H.3    Hata, A.4    Matsui, I.5
  • 4
    • 31944436453 scopus 로고    scopus 로고
    • No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients
    • Miyake N, Shimokawa O, Harada N, Sonsonkina N, Okubo A, Kawara H, et al. (2006). No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients. Am J Med Genet 140A:291-293.
    • (2006) Am J Med Genet , vol.140 A , pp. 291-293
    • Miyake, N.1    Shimokawa, O.2    Harada, N.3    Sonsonkina, N.4    Okubo, A.5    Kawara, H.6
  • 6
    • 0019850335 scopus 로고
    • Kabuki make-up syndrome: A syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency
    • Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T (1981). Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr 99:565-569
    • (1981) J Pediatr , vol.99 , pp. 565-569
    • Niikawa, N.1    Matsuura, N.2    Fukushima, Y.3    Ohsawa, T.4    Kajii, T.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.