Literature DB >> 34031799

Trisomy X syndrome with dystonia and a pathogenic SATB1 variant.

Ján Necpál1, Michael Zech2,3, Juliane Winkelmann2,3,4,5, Robert Jech6.   

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Year:  2021        PMID： 34031799     DOI： 10.1007/s10072-021-05320-0

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


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  4 in total

1.  Hemidystonia occurring in a patient with sarcoidosis.

Authors:  J N Caviness; C A Knox
Journal:  Mov Disord       Date:  1996-05       Impact factor: 10.338

2.  [Editorial: Medical ethics in medical care services].

Authors:  P Kassab
Journal:  AMB Rev Assoc Med Bras       Date:  1973-12

Review 3.  A review of trisomy X (47,XXX).

Authors:  Nicole R Tartaglia; Susan Howell; Ashley Sutherland; Rebecca Wilson; Lennie Wilson
Journal:  Orphanet J Rare Dis       Date:  2010-05-11       Impact factor: 4.123

4.  Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.

Authors:  Siddharth Srivastava; Jamie A Love-Nichols; Kira A Dies; David H Ledbetter; Christa L Martin; Wendy K Chung; Helen V Firth; Thomas Frazier; Robin L Hansen; Lisa Prock; Han Brunner; Ny Hoang; Stephen W Scherer; Mustafa Sahin; David T Miller
Journal:  Genet Med       Date:  2019-06-11       Impact factor: 8.822
  4 in total

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