Literature DB >> 30221377

A novel missense mutation of the STS gene in two siblings with X-linked ichthyosis, complicated by short stature, bone density reduction, epilepsy, and cryptorchidism.

A Ohyama1, H Nakano2, Y Imanishi3, T Seto4, D Tsuruta1, K Fukai1,5.   

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Year:  2018        PMID： 30221377     DOI： 10.1111/ced.13741

Source DB:  PubMed          Journal:  Clin Exp Dermatol        ISSN： 0307-6938            Impact factor:   3.470


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  1 in total

1.  X-linked ichthyosis: Molecular findings in four pedigrees with inconspicuous clinical manifestations.

Authors:  Min Zhang; Hailong Huang; Na Lin; Shuqiong He; Gang An; Yan Wang; Meihuan Chen; Lingji Chen; Yuan Lin; Liangpu Xu
Journal:  J Clin Lab Anal       Date:  2020-01-16       Impact factor: 2.352
  1 in total

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