Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals-Reference-Cited by-同舟云学术

Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals

Published:2020-06-27 Issue:9 Volume:182 Page:2068-2076
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Suter Aude‐Annick¹^ORCID,Santos‐Simarro Fernando²^ORCID,Toerring Pernille Mathiesen³,Abad Perez Angela¹,Ramos‐Mejia Rosario⁴,Heath Karen E.²,Huckstadt Victoria⁵,Parrón‐Pajares Manuel⁶,Mensah Martin Atta¹⁷,Hülsemann Wiebke⁸,Holtgrewe Manuel⁹,Mundlos Stefan¹¹⁰,Kornak Uwe¹¹¹,Bartsch Oliver¹²,Ehmke Nadja¹¹⁰^ORCID

Affiliation:

1. Institute of Medical Genetics and Human GeneticsCharité – Universitätsmedizin Berlin Berlin Germany

2. Institute of Medical and Molecular Genetics (INGEMM) and Skeletal dysplasia multidisciplinary Unit (UMDE)Hospital Universitario La Paz and CIBERER, ISCIII Madrid Spain

3. Department of Clinical GeneticsOdense University Hospital Odense Denmark

4. Department of Growth and Development, Garrahan Hospital Buenos Aires Argentina

5. Department of Genetics, Garrahan Hospital Buenos Aires Argentina

6. Department of Radiology and Skeletal dysplasia multidisciplinary Unit (UMDE)Hospital Universitario la Paz Madrid Spain

7. Berlin Institute of Health (BIH) Berlin Germany

8. Handchirurgie Kinderkrankenhaus Wilhelmstift Hamburg Germany

9. Core Unit Bioinformatics – CUBIBerlin Institute of Health (BIH) Berlin Germany

10. RG Development & DiseaseMax Planck Institute for Molecular Genetics Berlin Germany

11. Institute of Human GeneticsUniversity Medical Center Göttingen Göttingen Germany

12. Institute of Human GeneticsUniversity Medical Centre of the Johannes Gutenberg University Mainz Mainz Germany

Funder

Charité – Universitätsmedizin Berlin

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61735

Reference29 articles.

1. Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in theERFgene

2. ERF mutations reveal a balance of ETS factors controlling prostate oncogenesis

3. Molecular analysis provides further evidence that Chitayat syndrome is caused by the recurrent p.(Tyr89Cys) pathogenic variant in the ERF gene

4. Hyperphalangism, facial anomalies, hallux valgus, and bronchomalacia: A new syndrome?

5. Genomic Structure and Chromosomal Localization of the Novel ETS Factor, PE-2 (ERF)

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