메뉴 건너뛰기




Volumn 21, Issue 3, 2012, Pages 162-166

A familial case of Cantu craniofaciofronto digital syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ANTHROPOMETRIC PARAMETERS; APGAR SCORE; ARACHNOID CYST; ARTHROPATHY; ARTICLE; BIRTH WEIGHT; BODY HEIGHT; BONE AGE; BONE RADIOGRAPHY; BRAIN ATROPHY; BRAIN MALFORMATION; CANTU CRANIOFACIOFRONTO DIGITAL SYNDROME; CARDIOMEGALY; CASE REPORT; CEPHALIC CIRCUMFERENCE; CHILD; COARSE FACE; COLOR ULTRASOUND FLOWMETRY; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL HEART MALFORMATION; CONSTIPATION; ECCHYMOSIS; ECHOCARDIOGRAPHY; ECHOGRAPHY; ELASTIC FIBER; EYE MALFORMATION; FACE DYSMORPHIA; FAMILIAL DISEASE; FAMILY HISTORY; FEMALE; GROWTH RETARDATION; HAIR DISCOLORATION; HUMAN; HUMAN TISSUE; HYPERTELORISM; HYPOPLASIA; INFANTILE SPASM; JOINT HYPERELASTICITY; KARYOTYPING; LOW SET EAR; MACRODOLICHOCEPHALY; MALFORMATION SYNDROME; MICROCYTIC ANEMIA; MOUTH EXAMINATION; NEWBORN HYPOXIA; OSTEOPENIA; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; SCHOOL CHILD; SKIN BIOPSY; THORAX MALFORMATION; WHEEZING; ZYGOMATIC BONE HYPOPLASIA;

EID: 84862239370     PISSN: 09628827     EISSN: 14735717     Source Type: Journal    
DOI: 10.1097/MCD.0b013e328353a082     Document Type: Article
Times cited : (2)

References (7)
  • 2
    • 0345280772 scopus 로고    scopus 로고
    • Wrinkly skin syndrome: Ultrastructural alterations of the elastic fibers
    • Boente MCWB, Asial RA (1999). Wrinkly skin syndrome: Ultrastructural alterations of the elastic fibers. Pediatr Dermatol 16:113-117.
    • (1999) Pediatr Dermatol , vol.16 , pp. 113-117
    • Mcwb, B.1    Asial, R.A.2
  • 3
    • 0020385038 scopus 로고
    • Individualization of a syndrome with mental deficiency, macrocranium, peculiar facies, and cardiac and skeletal anomalies
    • Cantu JMS-CJ, Hernandez A, Nazara Z, Garcia-Cruz D (1982). Individualization of a syndrome with mental deficiency, macrocranium, peculiar facies, and cardiac and skeletal anomalies. Clin Genet 22:172-179.
    • (1982) Clin Genet , vol.22 , pp. 172-179
    • Cantu, J.M.S.-C.J.1    Hernandez, A.2    Nazara, Z.3    Garcia-Cruz, D.4
  • 4
    • 84862238202 scopus 로고    scopus 로고
    • Online Mendelian Inheritance in Man, OMIM (TM) McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University, National Center for Biotechnology Information, National Library of Medicine
    • Online Mendelian Inheritance in Man, OMIM (TM) (2011). McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University, National Center for Biotechnology Information, National Library of Medicine.
    • (2011)
  • 6
    • 3042761427 scopus 로고    scopus 로고
    • Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome
    • Sarkozy A, Conti E, Digilio MC, Marino B, Morini E, Pacileo G, et al. (2004). Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. J Med Genet 41:e68.
    • (2004) J Med Genet , vol.41
    • Sarkozy, A.1    Conti, E.2    Digilio, M.C.3    Marino, B.4    Morini, E.5    Pacileo, G.6
  • 7
    • 33847248863 scopus 로고    scopus 로고
    • Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations
    • Zenker M, Lehmann K, Schulz AL, Barth H, Hansmann D, Koenig R, et al. (2007). Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. J Med Genet 44:131-135.
    • (2007) J Med Genet , vol.44 , pp. 131-135
    • Zenker, M.1    Lehmann, K.2    Schulz, A.L.3    Barth, H.4    Hansmann, D.5    Koenig, R.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.