Literature DB >> 28431838

Global developmental delay and postnatal microcephaly: Bainbridge-Ropers syndrome with a new mutation in ASXL3.

S N Contreras-Capetillo1, Z H Vilchis-Zapata2, J Ribbón-Conde3, D Pinto-Escalante2.   

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Year:  2017        PMID： 28431838     DOI： 10.1016/j.nrl.2017.01.022

Source DB:  PubMed          Journal:  Neurologia (Engl Ed)        ISSN： 2173-5808


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  1 in total

1.  Phenotypic characterization of an older adult male with late-onset epilepsy and a novel mutation in ASXL3 shows overlap with the associated Bainbridge-Ropers syndrome.

Authors:  Willem Verhoeven; Jos Egger; Emmy Räkers; Arjen van Erkelens; Rolph Pfundt; Marjolein H Willemsen
Journal:  Neuropsychiatr Dis Treat       Date:  2018-03-27       Impact factor: 2.570
  1 in total

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