Literature DB >> 27176668

Cutaneous freckling: Possible new clinical marker for the diagnosis of Hermansky-Pudlak syndrome in Indian Asian patients with oculocutaneous albinism.

Karthikeyan Arcot Sadagopan1,2,3, Renugadevi Kathirvel4, Rosanne B Keep5, P Sundaresan4, Hui Huang6, Arndt Rolfs7,8, Kannan Parthiban9, P Vijayalakshmi10.   

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Year:  2016        PMID： 27176668     DOI： 10.1080/13816810.2016.1183217

Source DB:  PubMed          Journal:  Ophthalmic Genet        ISSN： 1381-6810            Impact factor:   1.803


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  2 in total

1.  Hermansky-Pudlak syndrome: Mutation update.

Authors:  Marjan Huizing; May C V Malicdan; Jennifer A Wang; Hadass Pri-Chen; Richard A Hess; Roxanne Fischer; Kevin J O'Brien; Melissa A Merideth; William A Gahl; Bernadette R Gochuico
Journal:  Hum Mutat       Date:  2020-01-23       Impact factor: 4.700

2.  Whole-Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of HPS3 in a Consanguineous Family with Hermansky-Pudlak Syndrome.

Authors:  Zhao-Xia Wang; Yi-Hui Liu; Yi Dong; Ya-Li Li; Tie-Yu Tang; Liang-Liang Fan
Journal:  Biomed Res Int       Date:  2021-09-24       Impact factor: 3.411
  2 in total

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