Prenatal Diagnosis for Restrictive Dermopathy Caused by Novel Mutations in ZMPSTE24 Gene and Review of Clinical Features and Pathogenic Mutations Described in Literatures

[1]  K. Schäkel,et al.  Restrictive Dermopathy: Four Case Reports and Structural Skin Changes. , 2018, Acta dermato-venereologica.

[2]  Amy K. Robertson,et al.  Phenotypic heterogeneity of ZMPSTE24 deficiency , 2018, American journal of medical genetics. Part A.

[3]  V. Kučinskas,et al.  Frame shift mutations of the ZMPSTE24 gene in two siblings with restrictive dermopathy , 2016, Clinical dysmorphology.

[4]  S. Danda,et al.  Restrictive Dermopathy. , 2016, Pediatrics and neonatology.

[5]  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.

[6]  D. Mitter,et al.  Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435C , 2013, Aging.

[7]  C. Ki,et al.  A Case of Restrictive Dermopathy with Novel ZMPSTE24 Gene Mutation , 2012, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

[8]  Z. Ahmad,et al.  Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity , 2012, Clinical genetics.

[9]  B. Tüysüz,et al.  Restrictive Dermopathy in a Turkish Newborn , 2011, Pediatric dermatology.

[10]  L. Vachon,et al.  Autosomal recessive LMNA mutation causing Restrictive Dermopathy , 2010, Clinical genetics.

[11]  N. Lévy,et al.  Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature , 2010, American journal of medical genetics. Part A.

[12]  Chumei Li.  Homozygosity for the common mutation c.1085dupT in the ZMPSTE24 gene in a Mennonite baby with restrictive dermopathy and placenta abruption , 2010, American journal of medical genetics. Part A.

[13]  Chih-ping Chen,et al.  A case of restrictive dermopathy with complete chorioamniotic membrane separation caused by a novel homozygous nonsense mutation in the ZMPSTE24 gene , 2009, American journal of medical genetics. Part A.

[14]  A. Kariminejad,et al.  Restrictive dermopathy. Molecular diagnosis of restrictive dermopathy in a stillborn fetus from a consanguineous Iranian family. , 2009, Saudi medical journal.

[15]  S. Magina,et al.  Restrictive dermopathy—a lethal congenital laminopathy. Case report and review of the literature , 2009, European Journal of Pediatrics.

[16]  J. Broers,et al.  A newly identified splice site mutation in ZMPSTE24 causes restrictive dermopathy in the Middle East , 2008, The British journal of dermatology.

[17]  C. Jackisch,et al.  Restrictive dermopathy: a rare laminopathy , 2008, Archives of Gynecology and Obstetrics.

[18]  Young Nam Kim,et al.  Complete chorioamniotic membrane separation with fetal restrictive dermopathy in two consecutive pregnancies , 2007, Prenatal diagnosis.

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

[20]  Jennifer M. Gardner,et al.  Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy. , 2005, The Journal of investigative dermatology.

[21]  C. López-Otín,et al.  Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors. , 2005, Human molecular genetics.

[22]  C. Fusch,et al.  Restrictive dermopathy associated with transposition of the great arteries and microcolon: a rare neonatal entity with new symptoms. , 2005, Archives of dermatology.

[23]  A. Chudley,et al.  Restrictive dermopathy , 2005, Pediatric Radiology.

[24]  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.

[25]  J. Deprest,et al.  Complete Chorioamniotic Membrane Separation , 2003, Fetal Diagnosis and Therapy.

[26]  C. Colpaert,et al.  Restrictive Dermopathy: A Case Report and a Critical Review of All Hypotheses of its Origin , 2002, Pediatric dermatology.

[27]  T. Shipp,et al.  Amnion-chorion separation after 17 weeks' gestation. , 1999, Obstetrics and gynecology.

[28]  H. Enders,et al.  Restrictive dermopathy: report and review. , 1997, American journal of medical genetics.

[29]  H. V. Straaten,et al.  Restrictive dermopathy and associated prenatal ultrasound findings: case report , 1997 .

[30]  L. Koulischer,et al.  Restrictive dermopathy, a lethal form of arthrogryposis multiplex with skin and bone dysplasias: three new cases and review of the literature. , 1992, American journal of medical genetics.

[31]  H. Toriello.  Restrictive dermopathy and report of another case. , 1986, American journal of medical genetics.

[32]  M. Hayden,et al.  Restrictive dermopathy: a newly recognized autosomal recessive skin dysplasia. , 1986, American journal of medical genetics.