Adult diagnosis of Townes–Brocks syndrome with renal failure: Two related cases and review of literature-Reference-Cited by-同舟云学术

Adult diagnosis of Townes–Brocks syndrome with renal failure: Two related cases and review of literature

Published:2021-01-13 Issue:3 Volume:185 Page:937-944
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Beaudoux Olivia¹²^ORCID,Lebre Anne‐Sophie³⁴,Doco Fenzy Martine⁴⁵,Spodenkiewicz Marta⁵,Canivet Eric⁶,Colosio Charlotte⁶,Poirsier Céline⁵

Affiliation:

1. CHU Reims, Pole de Biologie, Service de Pathologie Reims France

2. Université de Reims Champagne‐Ardenne, EA IRMAIC Reims France

3. CHU Reims, Pole de Biologie, Service de Biochimie Reims France

4. Université de Reims Champagne‐Ardenne Reims France

5. CHU Reims, Service de Génétique Reims France

6. CHU Reims, Service de Néphrologie Reims France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62050

Reference45 articles.

1. Townes‐Brocks syndrome: Report of three additional patients with previously undescribed renal and cardiac abnormalities;Barakat A. Y.;Dysmorphology and Clinical Genetics,1988

2. Association of a de novo16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes

3. The Association of an Epibulbar Dermoid and Duane Syndrome in a Patient with aSALL1Mutation (Townes-Brocks Syndrome)

4. Townes-Brocks syndrome: twenty novelSALL1 mutations in sporadic and familial cases and refinement of theSALL1 hot spot region

5. SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype

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