Encephalocele-radial, cardiac, gastrointestinal, anal/renal anomalies: Novel evidence for a new condition?-Reference-Cited by-同舟云学术

Encephalocele-radial, cardiac, gastrointestinal, anal/renal anomalies: Novel evidence for a new condition?

Published:2014-03-19 Issue:5 Volume:164 Page:1085-1091
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet

Author:

Valdez Carolina M.¹,Altmayer Stephan P.L.²,Barrow McArthur A.²,Telles Jorge A.B.³,Betat Rosilene da S.³,Zen Paulo R.G.⁴⁵^ORCID,Rosa Rafael F.M.³⁴⁵⁶

Affiliation:

1. Department of Ginecology and Obstetrics; Hospital Materno Infantil Presidente Vargas (HMIPV); Porto Alegre RS Brazil

2. Department of Medicine; Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA); Porto Alegre RS Brazil

3. Department of Fetal Medicine; HMIPV; Porto Alegre RS Brazil

4. Department of Pathology; UFCSPA; Porto Alegre RS Brazil

5. Department of Clinical Genetics; Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA) and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA); Porto Alegre RS Brazil

6. Department of Clinical Genetics; HMIPV; Porto Alegre RS Brazil

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36426/fullpdf

Reference23 articles.

1. Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2;Alter;J Med Genet,2007

2. DK phocomelia phenotype (von Voss-Cherstvoy syndrome) caused by somatic mosaicism for del(13q);Bamforth;Am J Med Genet,1997

3. Preliminary definition of a “critical region” of chromosome 13 in q32: Report of 14 cases with 13q deletions and review of the literature;Brown;Am J Med Genet,1993

4. von Voss-Cherstvoy syndrome with transient thrombocytopenia and normal psychomotor development;Brunetti-Pierri;Am J Med Genet Part A,2004

5. Syndrome of multiple congenital malformations including phocomelia, thrombocytopenia, encephalocele, and urogenital abnormalities;Cherstvoy;Lancet,1980

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