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Volumn 22, Issue 3, 2013, Pages 115-117

An additional case of cerebrofaciothoracic dysplasia associated with Chiari type i malformation

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARNOLD CHIARI MALFORMATION; ARTICLE; BRAIN CYST; CASE REPORT; CEREBROFACIOTHORACIC DYSPLASIA; CLINICAL FEATURE; CONGENITAL MALFORMATION; CONSANGUINITY; FACE DYSMORPHIA; FEMALE; GENETIC RISK; GROWTH RETARDATION; HALLUX VALGUS; HAND TREMOR; HEMATOTHORAX; HUMAN; HYPERTELORISM; KYPHOSCOLIOSIS; MALOCCLUSION; MENTAL DEFICIENCY; MICROGNATHIA; MULTIPLE MALFORMATION SYNDROME; NEUROSURGERY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; THORAX RADIOGRAPHY;

EID: 84879977867     PISSN: 09628827     EISSN: 14735717     Source Type: Journal    
DOI: 10.1097/MCD.0b013e328360c9ff     Document Type: Article
Times cited : (6)

References (10)
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    • Kanaka-Gantenbein, C.1    Chrousos, G.2    Fryssira, H.3    Mastorakos, G.4
  • 6
    • 34547160237 scopus 로고    scopus 로고
    • Displasia cerebrofaciotorácica (síndrome de Pascual-Castroviejo I): Presentación de dos nuevos pacientes
    • Pascual-Castroviejo I, Pascual Pascual SI, Velá zquez-Fragua R (2007). Cerebrofaciothoracic dysplasia (Pascual-Castroviejo type I syndrome): presentation of two new patients. Neurologia 22:401-405. (Pubitemid 47123014)
    • (2007) Neurologia , vol.22 , Issue.6 , pp. 401-405
    • Pascual-Castroviejo, I.1    Pascual Pascual, S.I.2    Velazquez Fragua, R.3
  • 8
    • 1642319469 scopus 로고    scopus 로고
    • Another case of cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome)
    • DOI 10.1016/S0387-7604(03)00133-5, PII S0387760403001335
    • Rufo-Campos M, Riveros-Huckstadt P, RodrIguez-Criado G, Hernández-Soto R (2004). Another case of cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome). Brain Dev 26:209-212. (Pubitemid 38367907)
    • (2004) Brain and Development , vol.26 , Issue.3 , pp. 209-212
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  • 9
    • 84862214419 scopus 로고    scopus 로고
    • A new case of cerebro-facio-thoracic dysplasia in a 3-years old girl with short stature and hypothyroidism
    • Smigiel R, Barg E, Gabrysz M, Szpich E, Sasiadek M, Sasiadek M (2012). A new case of cerebro-facio-thoracic dysplasia in a 3-years old girl with short stature and hypothyroidism. Clin Dysmorphol 21:167-169.
    • (2012) Clin Dysmorphol , vol.21 , pp. 167-169
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  • 10
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    • Homozygous frameshift mutation in TMCO 1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation
    • Xin B, Puffenberger EG, Turben S, Tan H, Zhou A,Wang H (2010). Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation. Proc Natl Acad Sci USA 107:258-263.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.