Aninteresting case of Piebaldism with café-au-lait macules and freckling: the use of targeted next-generation sequencing for molecular diagnosis
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Published in | EJD. European journal of dermatology Vol. 28; no. 1; pp. 119 - 120 |
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Main Authors | , , , , , |
Format | Journal Article |
Language | English |
Published |
Paris
John Libbey Eurotext
01.01.2018
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Author | Schepis, Carmelo Siragusa, Maddalena Calì, Francesco Ruggeri, Giuseppa Chiavetta, Valeria Failla, Pinella |
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References | Calì, Chiavetta, Ruggeri (CR3) 2017; 60 Angelo, Cianchini, Grosso, Zambruno, Cavalieri, Paradisi (CR6) 2001; 18 Shah (CR8) 2010; 57 Oiso, Fukai, Kawada, Suzuki (CR1) 2013; 40 CR4 Ruggieri, Polizzi, Schepis (CR10) 2016; 6 Stevens, Chiang, Messiaen (CR2) 2012; 158A Schepis, Siragusa, Puzzo, Amato, Elia (CR9) 2015; 29 Stenson, Ball, Mort (CR5) 2003; 21 Chiu, Dugan, Basel, Siegel (CR7) 2013; 30 C. Angelo (3186_CR6) 2001; 18 N. Oiso (3186_CR1) 2013; 40 3186_CR4 K.N. Shah (3186_CR8) 2010; 57 M. Ruggieri (3186_CR10) 2016; 6 C. Schepis (3186_CR9) 2015; 29 C.A. Stevens (3186_CR2) 2012; 158A P.D. Stenson (3186_CR5) 2003; 21 Y.E. Chiu (3186_CR7) 2013; 30 F. Calì (3186_CR3) 2017; 60 |
References_xml | – volume: 40 start-page: 330 year: 2013 end-page: 5 ident: CR1 article-title: Piebaldism publication-title: J Dermatol doi: 10.1111/j.1346-8138.2012.01583.x contributor: fullname: Suzuki – volume: 29 start-page: 818 year: 2015 end-page: 32 ident: CR9 article-title: Tuberous sclerosis underlying neonatal poliosis publication-title: J Eur Acad Dermatol Venereol doi: 10.1111/jdv.12427 contributor: fullname: Elia – volume: 158A start-page: 1195 year: 2012 end-page: 1199 ident: CR2 article-title: Cafe-au-lait macules and intertriginous freckling in piebaldism: clinical overlap with neurofibromatosis type 1 and Legius syndrome publication-title: Am J Med Genet doi: 10.1002/ajmg.a.35297 contributor: fullname: Messiaen – ident: CR4 – volume: 30 start-page: 379 year: 2013 end-page: 82 ident: CR7 article-title: Association of Piebaldism, multiple café-au-lait macules, and intertriginous freckling: clinical evidence of a common pathway between KIT and sprouty-related, ena/vasodilator-stimulated phosphoprotein homology-1 domain containing protein 1 (SPRED1) publication-title: Pediatr Dermatol doi: 10.1111/j.1525-1470.2012.01858.x contributor: fullname: Siegel – volume: 21 start-page: 577 year: 2003 end-page: 81 ident: CR5 article-title: Human Gene Mutation Database (HGMD): 2003 update publication-title: Hum Mutat doi: 10.1002/humu.10212 contributor: fullname: Mort – volume: 18 start-page: 490 year: 2001 end-page: 3 ident: CR6 article-title: Association of piebaldism and neurofibromatosis type 1 in a girl publication-title: Pediatr Dermatol doi: 10.1046/j.1525-1470.2001.1862005.x contributor: fullname: Paradisi – volume: 6 start-page: 525 year: 2016 end-page: 34 ident: CR10 article-title: Cutis tricolor: a literature review and report of five new cases publication-title: Quant Imaging Med Surg doi: 10.21037/qims.2016.10.14 contributor: fullname: Schepis – volume: 60 start-page: 93 year: 2017 end-page: 9 ident: CR3 article-title: Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform publication-title: Eur J Med Genet doi: 10.1016/j.ejmg.2016.11.001 contributor: fullname: Ruggeri – volume: 57 start-page: 1131 year: 2010 end-page: 53 ident: CR8 article-title: The Diagnostic and clinical significance of café-au-lait macules publication-title: Pediatr Clin N Am doi: 10.1016/j.pcl.2010.07.002 contributor: fullname: Shah – ident: 3186_CR4 doi: 10.1038/nature09534 – volume: 158A start-page: 1195 year: 2012 ident: 3186_CR2 publication-title: Am J Med Genet doi: 10.1002/ajmg.a.35297 contributor: fullname: C.A. Stevens – volume: 21 start-page: 577 year: 2003 ident: 3186_CR5 publication-title: Hum Mutat doi: 10.1002/humu.10212 contributor: fullname: P.D. Stenson – volume: 29 start-page: 818 year: 2015 ident: 3186_CR9 publication-title: J Eur Acad Dermatol Venereol doi: 10.1111/jdv.12427 contributor: fullname: C. Schepis – volume: 6 start-page: 525 year: 2016 ident: 3186_CR10 publication-title: Quant Imaging Med Surg doi: 10.21037/qims.2016.10.14 contributor: fullname: M. Ruggieri – volume: 40 start-page: 330 year: 2013 ident: 3186_CR1 publication-title: J Dermatol doi: 10.1111/j.1346-8138.2012.01583.x contributor: fullname: N. Oiso – volume: 57 start-page: 1131 year: 2010 ident: 3186_CR8 publication-title: Pediatr Clin N Am doi: 10.1016/j.pcl.2010.07.002 contributor: fullname: K.N. Shah – volume: 30 start-page: 379 year: 2013 ident: 3186_CR7 publication-title: Pediatr Dermatol doi: 10.1111/j.1525-1470.2012.01858.x contributor: fullname: Y.E. Chiu – volume: 60 start-page: 93 year: 2017 ident: 3186_CR3 publication-title: Eur J Med Genet doi: 10.1016/j.ejmg.2016.11.001 contributor: fullname: F. Calì – volume: 18 start-page: 490 year: 2001 ident: 3186_CR6 publication-title: Pediatr Dermatol doi: 10.1046/j.1525-1470.2001.1862005.x contributor: fullname: C. Angelo |
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Title | Aninteresting case of Piebaldism with café-au-lait macules and freckling: the use of targeted next-generation sequencing for molecular diagnosis |
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