Literature DB >> 16718686

Autosomal dominant atretic cephalocele with phenotype variability: report of a Brazilian family with six affected in four generations.

D R Carvalho1, L R Giuliani, G N Simão, A C Santos, J M Pina-Neto.   

Abstract

Atretic cephalocele is a clinicopathological entity, which is different from the common form of cephalocele. Its etiopathogenesis has not been completely explained and there are only two previous reports of familial recurrence. We report a Brazilian family with autosomal dominant inheritance with variable expressivity. (c) 2006 Wiley-Liss, Inc.

Entities:  

Mesh：

Year:  2006        PMID： 16718686     DOI： 10.1002/ajmg.a.31255

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


  5 in total

1.  Recessive LAMA5 Variants Associated With Partial Epilepsy and Spasms in Infancy.

Authors:  Sheng Luo; Zhi-Gang Liu; Juan Wang; Jun-Xia Luo; Xing-Guang Ye; Xin Li; Qiong-Xiang Zhai; Xiao-Rong Liu; Jie Wang; Liang-Di Gao; Fu-Li Liu; Zi-Long Ye; Huan Li; Zai-Fen Gao; Qing-Hui Guo; Bing-Mei Li; Yong-Hong Yi; Wei-Ping Liao
Journal:  Front Mol Neurosci       Date:  2022-05-19       Impact factor: 6.261

2.  Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity.

Authors:  Ali Jalali; Kimberly A Aldinger; Ajit Chary; David G McLone; Robin M Bowman; Luan Cong Le; Phillip Jardine; Ruth Newbury-Ecob; Andrew Mallick; Nadereh Jafari; Eric J Russell; John Curran; Pam Nguyen; Karim Ouahchi; Charles Lee; William B Dobyns; Kathleen J Millen; Joao M Pina-Neto; John A Kessler; Alexander G Bassuk
Journal:  Hum Genet       Date:  2008-01-19       Impact factor: 4.132

3.  Atretic cephaloceles: a comprehensive analysis of historical cohort.

Authors:  Mustafa Kemal Demir; Ahmet Çolak; Murat Şakir Ekşi; Emel Ece Özcan-Ekşi; Akın Akakın; Baran Yılmaz
Journal:  Childs Nerv Syst       Date:  2016-07-26       Impact factor: 1.475

4.  A Novel Pathogenic CDH3 Variant underlying Heredity Hypotrichosis Simplex detected by Whole-Exome Sequencing (WES)-A Case Report.

Authors:  Ayat Kadhi; Lamiaa Hamie; Christel Tamer; Georges Nemer; Mazen Kurban
Journal:  Cold Spring Harb Mol Case Stud       Date:  2022-08-05

Review 5.  The spectrum of venous anomalies associated with atretic parietal cephaloceles: A literature review.

Authors:  Serra Sencer; Mohamed M Arnaout; Hosam Al-Jehani; Zahraa A Alsubaihawi; Zahraa F Al-Sharshahi; Samer S Hoz
Journal:  Surg Neurol Int       Date:  2021-07-06
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.