Literature DB >> 28504826

Pigmented macules in Waardenburg syndrome type 2 due to KITLG mutation.

Yasushi Ogawa1, Michihiro Kono1, Masashi Akiyama1.   

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Year:  2017        PMID： 28504826     DOI： 10.1111/pcmr.12597

Source DB:  PubMed          Journal:  Pigment Cell Melanoma Res        ISSN： 1755-1471            Impact factor:   4.693


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2.  Identification of a novel mutation in the KITLG gene in a Chinese family with familial progressive hyper- and hypopigmentation.

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4.  Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss.

Authors:  B Vona; D A Schwartzbaum; A A Rodriguez; M Tekin; K M Girisha; R Maroofian; S Douzgou; S S Lewis; M B Toosi; P Radhakrishnan; N Bozan; R Akın; M Doosti; R Manju; D Duman; C J Sineni; S Nampoothiri; E G Karimiani; H Houlden; G Bademci
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