Literature DB >> 21548128

Multiple capillary skin malformations, epilepsy, microcephaly, mental retardation, hypoplasia of the distal phalanges: report of a new case and further delineation of a new syndrome.

Bertrand Isidor1, Sébastien Barbarot, Claire Bénéteau, Cédric Le Caignec, Albert David.   

Abstract

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Year:  2011        PMID： 21548128     DOI： 10.1002/ajmg.a.34048

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


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  4 in total

Review 1.  Clinical review of genetic epileptic encephalopathies.

Authors:  Grace J Noh; Y Jane Tavyev Asher; John M Graham
Journal:  Eur J Med Genet       Date:  2012-01-25       Impact factor: 2.708

2.  Mechanism of recruitment and activation of the endosome-associated deubiquitinase AMSH.

Authors:  Christopher W Davies; Lake N Paul; Chittaranjan Das
Journal:  Biochemistry       Date:  2013-10-23       Impact factor: 3.162

3.  A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome.

Authors:  Ikumi Hori; Fuyuki Miya; Yutaka Negishi; Ayako Hattori; Naoki Ando; Keith A Boroevich; Nobuhiko Okamoto; Mitsuhiro Kato; Tatsuhiko Tsunoda; Mami Yamasaki; Yonehiro Kanemura; Kenjiro Kosaki; Shinji Saitoh
Journal:  J Hum Genet       Date:  2018-06-15       Impact factor: 3.172

4.  Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.

Authors:  Laura M McDonell; Ghayda M Mirzaa; Diana Alcantara; Jeremy Schwartzentruber; Melissa T Carter; Leo J Lee; Carol L Clericuzio; John M Graham; Deborah J Morris-Rosendahl; Tilman Polster; Gyula Acsadi; Sharron Townshend; Simon Williams; Anne Halbert; Bertrand Isidor; Albert David; Christopher D Smyser; Alex R Paciorkowski; Marcia Willing; John Woulfe; Soma Das; Chandree L Beaulieu; Janet Marcadier; Michael T Geraghty; Brendan J Frey; Jacek Majewski; Dennis E Bulman; William B Dobyns; Mark O'Driscoll; Kym M Boycott
Journal:  Nat Genet       Date:  2013-03-31       Impact factor: 38.330
  4 in total

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