Severe forms of Baraitser–Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations-Reference-Cited by-同舟云学术

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Severe forms of Baraitser–Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations

Published:2013-06-12 Issue:2 Volume:22 Page:179-183
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Di Donato N,Rump A,Koenig R,Der Kaloustian V M,Halal F,Sonntag K,Krause C,Hackmann K,Hahn G,Schrock E,Verloes A

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2013130.pdf

Reference15 articles.

1. Riviere JB, van Bon BW, Hoischen A et al: De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet 2012; 44: S1–S2.

2. Guion-Almeida ML, Richieri-Costa A : Acrocallosal syndrome: report of a Brazilian girl. Am J Med Genet 1992; 43: 938–941.

3. Der Kaloustian VM, Pelletier M, Costa T, Blackston DR, Oudjhane K : A new syndrome with craniofacial and skeletal dysmorphisms and developmental delay. Clin Dysmorphol 2001; 10: 87–93.

4. Fryns JP, Aftimos S : New MR/MCA syndrome with distinct facial appearance and general habitus, broad and webbed neck, hypoplastic inverted nipples, epilepsy, and pachygyria of the frontal lobes. J Med Genet 2000; 37: 460–462.

5. Winter RM : Cerebro-fronto-facial syndrome: three types? Clin Dysmorphol 2001; 10: 79–80.

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1. Expansion of the prenatal phenotype of Baraitser–Winter syndrome: Presentation of two cases of multiple congenital anomaly syndrome;American Journal of Medical Genetics Part A;2024-05-24

2. Case report：A new foetal sonographic characteristic of Baraitser–Winter cerebrofrontofacial syndrome with ACTB mutation;2024-05-21

3. Baraitser–Winter Syndrome Hotspot Mutation R196H in Cytoskeletal β–actin Reduces F–actin Stability and Perturbs Interaction with the Arp2/3 Complex;2024-03-20

4. The non-muscle actinopathy-associated mutation E334Q in cytoskeletal γ-actin perturbs interaction of actin filaments with myosin and ADF/cofilin family proteins;eLife;2024-03-06

5. Hearing Loss in Baraitser–Winter Syndrome: Case Reports and Review of the Literature;Journal of Clinical Medicine;2024-03-05

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