Literature DB >> 17076721

Apert syndrome.

Anatoli Freiman1, Oren Tessler, Benjamin Barankin.   

Abstract

Apert syndrome or acrocephalosyndactyly is a rare autosomal dominant malformation syndrome characterized by craniosynostosis, symmetric severe syndactyly, and a variety of abnormalities of the skin, skeleton, brain, and visceral organs. A case of Apert syndrome and the clinical and specific cutaneous manifestations of this condition are reviewed.

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Mesh：

Year:  2006        PMID： 17076721     DOI： 10.1111/j.1365-4632.2006.02745.x

Source DB:  PubMed          Journal:  Int J Dermatol        ISSN： 0011-9059            Impact factor:   2.736


  6 in total

Review 1.  The molecular and cellular basis of Apert syndrome.

Authors:  Chao Liu; Yazhou Cui; Jing Luan; Xiaoyan Zhou; Jinxiang Han
Journal:  Intractable Rare Dis Res       Date:  2013-11

2.  Role of FGFR2-signaling in the pathogenesis of acne.

Authors:  Bodo C Melnik
Journal:  Dermatoendocrinol       Date:  2009-05

3.  Apert Syndrome: Late presentation and treatment challenges.

Authors:  Abdelmoneim E M Kheir; Ahlam A Hamed; Wala M Maki; Lina H M Hasan
Journal:  Sudan J Paediatr       Date:  2014

4.  [Uncommon acne-associated syndromes and their significance in understanding the pathogenesis of acne].

Authors:  J-B Hong; H Prucha; B Melnik; M Ziai; J Ring; W Chen
Journal:  Hautarzt       Date:  2013-04       Impact factor: 0.751

5.  Acne and craniofacial defects.

Authors:  Lauren Langenderfer; Rachel Giesey; Harib Ezaldein; Gregory R Delost
Journal:  JAAD Case Rep       Date:  2019-05-31

6.  A novel FGFR2 (S137W) mutation resulting in Apert syndrome: A case report.

Authors:  Qingyang Shi; Rulin Dai; Ruixue Wang; Jili Jing; Xiaowei Yu; Ruizhi Liu; Yanhong Liu
Journal:  Medicine (Baltimore)       Date:  2020-09-25       Impact factor: 1.817
  6 in total

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