Restrictive dermopathy: Novel ZMPSTE24 mutation and clues for prenatal diagnosis

Received: Jun 11, 2019 Accepted: Jul 08, 2019 Published Online: Jul 11, 2019 Journal: Annals of Biotechnology Publisher: MedDocs Publishers LLC Online edition: http://meddocsonline.org/ Copyright: © Guida V (2019). This Article is distributed under the terms of Creative Commons Attribution 4.0 International License *Corresponding Author(s): Valentina Guida Istituto CSS-Mendel, Viale Regina Margherita 261, 00198 Rome, Italy Tel: +39-06-44160510, Fax: +39-06-44160548, Email: v.guida@css-mendel.it Annals of Biotechnology

[1]  T. Mazza,et al.  Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect , 2018, Human mutation.

[2]  N. Lévy,et al.  New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update , 2013, European Journal of Human Genetics.

[3]  S. Jagadeesh,et al.  Prenatal diagnosis of restrictive dermopathy. , 2009, Indian pediatrics.

[4]  M. Divon,et al.  Restrictive dermopathy: two‐ and three‐dimensional sonographic features , 2008, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[5]  M. Kulkarni,et al.  Restrictive dermatopathy: A lethal congenital dermatosis and review of literature , 2006, American journal of medical genetics. Part A.

[6]  R. Hennekam,et al.  Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. , 2004, Human molecular genetics.

[7]  E. Mulder,et al.  Restrictive dermopathy and fetal behaviour , 2001, Prenatal diagnosis.

[8]  H. V. Straaten,et al.  Restrictive dermopathy and associated prenatal ultrasound findings: case report , 1997, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.