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Therapeutics and Clinical Risk Management Volume 11, 2015 - Issue
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Case Report

A novel missense KIT mutation causing piebaldism in one Chinese family associated with café-au-lait macules and intertriginous freckling

Wei-Xue Jia1 Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China;2 Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Nanjing, Jiangsu, China
,
Xue-Min Xiao1 Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China;2 Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Nanjing, Jiangsu, China
,
Jian-Bing Wu1 Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China;2 Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Nanjing, Jiangsu, China
,
Yi-Ping Ma1 Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China;2 Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Nanjing, Jiangsu, China
,
Yi-Ping Ge1 Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China;2 Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Nanjing, Jiangsu, China
,
Qi Li1 Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China;2 Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Nanjing, Jiangsu, China
,
Qiu-Xia Mao1 Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China;2 Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Nanjing, Jiangsu, China
&
Cheng-Rang Li1 Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China;2 Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Nanjing, Jiangsu, ChinaCorrespondence[email protected]
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Pages 635-638 | Published online: 21 Apr 2015

References

  • GiebelLBSpritzRAMutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldismProc Natl Acad Sci U S A19918819869686991717985
  • Sánchez-MartínM1Pérez-LosadaJRodríguez-GarcíaADeletion of the SLUG (SNAI2) gene results in human piebaldismAm J Med Genet A2003122A212513212955764
  • ChangTMcGraeJDJrHashimotoKUltrastructural study of two patients with both piebaldism and neurofibromatosis 1Pediatr Dermatol1993103224234 discussion 2888415298
  • TayYKNeurofibromatosis 1 and piebaldism: a case reportDermatology199819744014029873189
  • AngeloCCianchiniGGrossoMGZambrunoGCavalieriRParadisiMAssociation of piebaldism and neurofibromatosis type 1 in a girlPediatr Dermatol200118649049311841634
  • SpritzRAHolmesSAItinPKüsterWNovel mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene in human piebaldismJ Invest Dermatol1993101122257687267
  • DuarteAFMotaABaudrierTPiebaldism and neurofibromatosis type 1: family reportDermatol Online J20101611120137753
  • StevensCAChiangPWMessiaenLMCafe-au-lait macules and intertriginous freckling in piebaldism: clinical overlap with neurofibromatosis type 1 and Legius syndromeAm J Med Genet A2012158A51195119922438235
  • ChiuYEDuganSBaselDSiegelDHAssociation of Piebaldism, multiple cafe-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)Pediatr Dermatol201330337938223016555
  • ParkSYKimHJAhnSKPiebaldism with neurofibromatosis type I: a familial caseAnn Dermatol201426226426624882989
  • SpritzRAHolmesSARamesarRGreenbergJCurtisDBeightonPMutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldismAm J Hum Genet1992515105810651384325
  • WardKAMossCSandersDSHuman piebaldism: relationship between phenotype and site of kit gene mutationBr J Dermatol199513269299357544995
  • NeurofibromatosisConference statement. National Institutes of Health Consensus Development ConferenceArch Neurol19884555755783128965

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