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Volumn 161, Issue 5, 2013, Pages 1073-1077

A De Novo Deletion at 16q24.3 Involving ANKRD11 in a Japanese Patient With KBG Syndrome

Author keywords

16q24.3 microdeletion syndrome; ANKRD11; De novo deletion; KBG syndrome

Indexed keywords

16Q24.3 MICRODELETION SYNDROME; ANKYRIN REPEAT DOMAIN 11 GENE; ARTICLE; ATAXIA; BONE AGE; BRACHYDACTYLY; BRAIN MALFORMATION; CASE REPORT; CEREBELLUM VERMIS; CHILD; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CONGENITAL MALFORMATION; CONTROLLED STUDY; DISEASE SEVERITY; ELECTROENCEPHALOGRAPHY; EPILEPTIC DISCHARGE; FACE DYSMORPHIA; FACIES; GENE DELETION; HUMAN; INTELLECTUAL IMPAIRMENT; INTELLIGENCE QUOTIENT; JAPANESE; KBG SYNDROME; MALE; MUTATOR GENE; NEUROLOGIC EXAMINATION; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; SPEECH DISORDER;

EID: 84876815778     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35661     Document Type: Article
Times cited : (15)

References (10)
  • 2
    • 0016809496 scopus 로고
    • The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies
    • Herrmann J, Pallister PD, Tiddy W, Opitz JM. 1975. The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies. Birth Defects Orig Artic Ser 11:7-18.
    • (1975) Birth Defects Orig Artic Ser , vol.11 , pp. 7-18
    • Herrmann, J.1    Pallister, P.D.2    Tiddy, W.3    Opitz, J.M.4
  • 5
    • 84862792024 scopus 로고    scopus 로고
    • Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome
    • Sacharow S, Li D, Fan YS, Tekin M. 2012. Familial 16q24.3 microdeletion involving ANKRD11 causes a KBG-like syndrome. Am J Med Genet Part A 158A:547-552.
    • (2012) Am J Med Genet Part A , vol.158 A , pp. 547-552
    • Sacharow, S.1    Li, D.2    Fan, Y.S.3    Tekin, M.4
  • 7
    • 33846849462 scopus 로고    scopus 로고
    • KBG syndrome: Report of twins, neurological characteristics, and delineation of diagnostic criteria
    • Skjei KL, Martin MM, Slavotinek AM. 2007. KBG syndrome: Report of twins, neurological characteristics, and delineation of diagnostic criteria. Am J Med Genet Part A 143:292-300.
    • (2007) Am J Med Genet Part A , vol.143 , pp. 292-300
    • Skjei, K.L.1    Martin, M.M.2    Slavotinek, A.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.