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Volumn 173, Issue 3, 2017, Pages 809-812

A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay

Author keywords

[No Author keywords available]

Indexed keywords

BODY HEIGHT; BODY WEIGHT; CAFE AU LAIT SPOT; CASE REPORT; CESAREAN SECTION; CHILD; CLEFT PALATE; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; GENE; GENE IDENTIFICATION; HEAD CIRCUMFERENCE; HUMAN; INTELLECTUAL IMPAIRMENT; LETTER; MALE; MALOCCLUSION; MONOZYGOTIC TWINS; OCCUPATIONAL THERAPY; ORAL SURGERY; PHYSICAL EXAMINATION; PHYSIOTHERAPY; POINT MUTATION; REPRODUCTIVE HISTORY; SANGER SEQUENCING; SATB2 GENE; SCHOOL CHILD; SIGN LANGUAGE; SPEECH THERAPY; TIME TO TREATMENT; TOOTH MALFORMATION; WHOLE EXOME SEQUENCING; COMPLICATION; GENETICS; PATHOPHYSIOLOGY; TWINS;

EID: 85013167731     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.38071     Document Type: Letter
Times cited : (4)

References (10)
  • 1
    • 84978296452 scopus 로고    scopus 로고
    • Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutation
    • Boone PM, Chan YM, Hunter JV, Pottkotter LE, Davino NA, Yang Y, Beuten J, Bacino CA. 2016. Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutation. Am J Med Genet A 170:3028–3032.
    • (2016) Am J Med Genet A , vol.170 , pp. 3028-3032
    • Boone, P.M.1    Chan, Y.M.2    Hunter, J.V.3    Pottkotter, L.E.4    Davino, N.A.5    Yang, Y.6    Beuten, J.7    Bacino, C.A.8
  • 2
    • 0347361512 scopus 로고    scopus 로고
    • SUMO modification of a novel MAR-binding protein, SATB2, modulates immunoglobulin mu gene expression
    • Dobreva G, Dambacher J, Grosschedl R. 2003. SUMO modification of a novel MAR-binding protein, SATB2, modulates immunoglobulin mu gene expression. Genes Dev 17:3048–3061.
    • (2003) Genes Dev , vol.17 , pp. 3048-3061
    • Dobreva, G.1    Dambacher, J.2    Grosschedl, R.3
  • 5
    • 84955245521 scopus 로고    scopus 로고
    • SATB2-associated syndrome presenting with Rett-like phenotypes
    • Lee JS, Yoo Y, Lim BC, Kim KJ, Choi M, Chae JH. 2016. SATB2-associated syndrome presenting with Rett-like phenotypes. Clin Genet 89:728–732.
    • (2016) Clin Genet , vol.89 , pp. 728-732
    • Lee, J.S.1    Yoo, Y.2    Lim, B.C.3    Kim, K.J.4    Choi, M.5    Chae, J.H.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.