Literature DB >> 28951171

A de novo 10.1-Mb 3p25 terminal deletion including SETD5 in a patient with ptosis and psychomotor retardation.

Hideaki Yagasaki1, Takako Toda2, Keiichi Koizumi2, Takeshi Sugiyama2, Tetsuo Ohyama2, Minako Hoshiai2, Takaya Nakane2, Kanji Sugita2.   

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Year:  2017        PMID: 28951171     DOI: 10.1016/j.pedneo.2017.09.004

Source DB:  PubMed          Journal:  Pediatr Neonatol        ISSN: 1875-9572            Impact factor:   2.083


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  1 in total

1.  Familiar del3p syndrome: The uncertainty of the prognosis. A case report.

Authors:  Márcia Martins; Regina Arantes; Pedro Botelho; Marta Souto; Osvaldo Moutinho; Rosário Pinto Leite
Journal:  Clin Case Rep       Date:  2021-03-09
  1 in total

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