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Volumn 173, Issue 9, 2017, Pages 2408-2414

Automatic recognition of the XLHED phenotype from facial images

Author keywords

anhidrotic hypohidrotic ectodermal dysplasia; automated facial recognition; dermatology; dysmorphology; pediatrics

Indexed keywords

ADULT; AGED; AREA UNDER THE CURVE; ARTICLE; AUTOMATED FACIAL RECOGNITION TECHNOLOGY; CHILD; CONTROLLED STUDY; DIAGNOSTIC TEST ACCURACY STUDY; DIFFERENTIAL DIAGNOSIS; EDA GENE; FACE PROFILE; FEMALE; GENE; GENE MUTATION; GROUPS BY AGE; HETEROZYGOSITY; HUMAN; HYPOHIDROTIC ECTODERMAL DYSPLASIA; IMAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; NEWBORN; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RECEIVER OPERATING CHARACTERISTIC; SCHOOL CHILD; SENSITIVITY AND SPECIFICITY; TECHNOLOGY; X CHROMOSOME LINKED DISORDER; X LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA; DIAGNOSTIC IMAGING; FACE; IMAGE PROCESSING; INFANT; PATHOPHYSIOLOGY; PROCEDURES;

EID: 85022324414     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.38343     Document Type: Article
Times cited : (37)

References (14)
  • 3
    • 78650427945 scopus 로고    scopus 로고
    • Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases
    • Cluzeau, C., Hadj-Rabia, S., Jambou, M., Mansour, S., Guigue, P., Masmoudi, S., … Smahi, A. (2011). Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Human Mutation, 32, 70–72.
    • (2011) Human Mutation , vol.32 , pp. 70-72
    • Cluzeau, C.1    Hadj-Rabia, S.2    Jambou, M.3    Mansour, S.4    Guigue, P.5    Masmoudi, S.6    Smahi, A.7
  • 4
    • 84908253590 scopus 로고    scopus 로고
    • X-linked hypohidrotic ectodermal dysplasia (XLHED): Clinical and diagnostic insights from an international patient registry
    • Fete, M., Hermann, J., Behrens, J., & Huttner, K. M. (2014). X-linked hypohidrotic ectodermal dysplasia (XLHED): Clinical and diagnostic insights from an international patient registry. American Journal of Medical Genetics Part A 164A:2437–2442.
    • (2014) American Journal of Medical Genetics Part A , vol.164A , pp. 2437-2442
    • Fete, M.1    Hermann, J.2    Behrens, J.3    Huttner, K.M.4
  • 6
    • 84973130306 scopus 로고    scopus 로고
    • The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes
    • Gripp, K. W., Baker, L., Telegrafi, A., & Monaghan, K. G. (2016). The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes. American Journal of Medical Genetics Part A, 9999A, 1–9.
    • (2016) American Journal of Medical Genetics Part A , vol.9999A , pp. 1-9
    • Gripp, K.W.1    Baker, L.2    Telegrafi, A.3    Monaghan, K.G.4
  • 9
    • 15744367850 scopus 로고    scopus 로고
    • Causality, models reasoning and inference by Judea Pearl (book review)
    • Neuberg, L. G. (2003). Causality, models reasoning and inference by Judea Pearl (book review). Econometric Theory, 19, 675–685.
    • (2003) Econometric Theory , vol.19 , pp. 675-685
    • Neuberg, L.G.1
  • 10
    • 0025058021 scopus 로고
    • Facial morphometrics in the identification of gene carriers of X-linked hypohidrotic ectodermal dysplasia
    • Saksena, S. S., & Bixler, D. (1990). Facial morphometrics in the identification of gene carriers of X-linked hypohidrotic ectodermal dysplasia. American Journal of Medical Genetics, 35, 105–114.
    • (1990) American Journal of Medical Genetics , vol.35 , pp. 105-114
    • Saksena, S.S.1    Bixler, D.2
  • 14
    • 84861639425 scopus 로고    scopus 로고
    • A rare heterozygous TRAF6 variant is associated with hypohidrotic ectodermal dysplasia
    • Wisniewski, S. A., & Trzeciak, W. H. (2012). A rare heterozygous TRAF6 variant is associated with hypohidrotic ectodermal dysplasia. British Journal of Dermatology, 166, 1353–1356.
    • (2012) British Journal of Dermatology , vol.166 , pp. 1353-1356
    • Wisniewski, S.A.1    Trzeciak, W.H.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.