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Volumn 528, Issue 1, 2013, Pages 55-57

The smallest of the small

Author keywords

Historical; Intrauterine growth restriction; Lucia Zarate; MOPD II; Osteodysplasia; Pericentrin; Primordial dwarfism

Indexed keywords

ARTICLE; CASE REPORT; DWARFISM; FAMILY HISTORY; FEMALE; HEAD CIRCUMFERENCE; HUMAN; INFORMATION CENTER; MEDICAL DOCUMENTATION; MENTAL DEFICIENCY; MEXICO; MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM; MICROCEPHALY; NORTH AMERICA; PERINATAL PERIOD; PERSONALITY; PHOTOGRAPHY; PRIORITY JOURNAL; SHORT STATURE; UNITED KINGDOM;

EID: 84882656343     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.03.081     Document Type: Article
Times cited : (6)

References (11)
  • 1
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    • Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations
    • Bober M.B., et al. Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations. Am. J. Med. Genet. 2012, 158A:2719-2725.
    • (2012) Am. J. Med. Genet. , vol.158 A , pp. 2719-2725
    • Bober, M.B.1
  • 3
    • 38649092988 scopus 로고    scopus 로고
    • Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling
    • Griffith E., et al. Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. Nat. Genet. 2008, 40:232-236.
    • (2008) Nat. Genet. , vol.40 , pp. 232-236
    • Griffith, E.1
  • 4
    • 4344631651 scopus 로고    scopus 로고
    • Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings
    • Hall J.G., Flora C., Scott C.I., Pauli R.M., Tanakam K.I. Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings. Am. J. Med. Genet. 2004, 130A:55-72.
    • (2004) Am. J. Med. Genet. , vol.130 A , pp. 55-72
    • Hall, J.G.1    Flora, C.2    Scott, C.I.3    Pauli, R.M.4    Tanakam, K.I.5
  • 5
    • 0020053315 scopus 로고
    • Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome
    • Majewski F., Goecke T. Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome. Am. J. Med. Genet. 1982, 12:7-21.
    • (1982) Am. J. Med. Genet. , vol.12 , pp. 7-21
    • Majewski, F.1    Goecke, T.2
  • 6
    • 0020036950 scopus 로고
    • Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism
    • Majewski F., Ranke M., Schinzel A. Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism. Am. J. Med. Genet. 1982, 12:23-35.
    • (1982) Am. J. Med. Genet. , vol.12 , pp. 23-35
    • Majewski, F.1    Ranke, M.2    Schinzel, A.3
  • 8
  • 9
    • 38949087294 scopus 로고    scopus 로고
    • Mutations in the pericentrin (PCNT) gene cause primordial dwarfism
    • Rauch A., et al. Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science 2008, 319:816-819.
    • (2008) Science , vol.319 , pp. 816-819
    • Rauch, A.1
  • 10
    • 84882611764 scopus 로고    scopus 로고
    • Wikipedia.Lucia Zarate Accessed August 8, 2012
    • Wikipedia.Lucia Zarate Accessed August 8, 2012. http://en.wikipedia.org/wiki/Lucia_Zarate.
  • 11
    • 78649629939 scopus 로고    scopus 로고
    • Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families
    • Willems M., et al. Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families. J. Med. Genet. 2010, 47:797-802.
    • (2010) J. Med. Genet. , vol.47 , pp. 797-802
    • Willems, M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.