Literature DB >> 26419500

Long-term survival in microcephalic osteodysplastic primordial dwarfism type I: Evaluation of an 18-year-old male with g.55G>A homozygous mutation in RNU4ATAC.

Ghada M H Abdel-Salam1, Bayoumi A Emam1, Yasmin M Khalil2, Mohamed S Abdel-Hamid3.   

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Year:  2015        PMID： 26419500     DOI： 10.1002/ajmg.a.37409

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  2 in total

1.  Mutations in the U11/U12-65K protein associated with isolated growth hormone deficiency lead to structural destabilization and impaired binding of U12 snRNA.

Authors:  Antto J Norppa; Tuuli M Kauppala; Harri A Heikkinen; Bhupendra Verma; Hideo Iwaï; Mikko J Frilander
Journal:  RNA       Date:  2017-12-18       Impact factor: 4.942

2.  A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome.

Authors:  Yael Dinur Schejter; Adi Ovadia; Roumiana Alexandrova; Bhooma Thiruvahindrapuram; Sergio L Pereira; David E Manson; Ajoy Vincent; Daniele Merico; Chaim M Roifman
Journal:  NPJ Genom Med       Date:  2017-07-10       Impact factor: 8.617
  2 in total

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