Literature DB >> 23598465

An additional case of cerebrofaciothoracic dysplasia associated with Chiari type I malformation.

Ambra Cortesi1, Maja Rossi, Marta Mazzi, Giuseppina Marseglia, Chiara Pescucci, Simona Palchetti, Francesca Torricelli, Alfredo Orrico.   

Abstract

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Year:  2013        PMID： 23598465     DOI： 10.1097/MCD.0b013e328360c9ff

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  4 in total

Review 1.  Synchronous complex Chiari malformation and cleft palate-a case-based review.

Authors:  Jacques Lara-Reyna; Johnny Carlton; Whitney E Parker; Jeffrey P Greenfield
Journal:  Childs Nerv Syst       Date:  2018-08-21       Impact factor: 1.475

2.  Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.

Authors:  Davut Pehlivan; Ender Karaca; Hatip Aydin; Christine R Beck; Tomasz Gambin; Donna M Muzny; B Bilge Geckinli; Ali Karaman; Shalini N Jhangiani; Richard A Gibbs; James R Lupski
Journal:  Eur J Hum Genet       Date:  2014-01-15       Impact factor: 4.246

3.  Cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome): Identification of a novel mutation, use of facial recognition analysis, and review of the literature.

Authors:  Jennifer A F Tender; Carlos R Ferreira
Journal:  Transl Sci Rare Dis       Date:  2018-04-13

4.  Ca2+ homeostasis maintained by TMCO1 underlies corpus callosum development via ERK signaling.

Authors:  Ke-Yan Yang; Song Zhao; Haiping Feng; Jiaqi Shen; Yuwei Chen; Si-Tong Wang; Si-Jia Wang; Yu-Xin Zhang; Yun Wang; Caixia Guo; Hongmei Liu; Tie-Shan Tang
Journal:  Cell Death Dis       Date:  2022-08-04       Impact factor: 9.685
  4 in total

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