Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene-Reference-Cited by-同舟云学术

Two unrelated families with variable expression of Fraser syndrome due to the same pathogenic variant in the FRAS1 gene

Published:2020-01-30 Issue:4 Volume:182 Page:773-779
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Midro Alina T.¹^ORCID,Stasiewicz‐Jarocka Beata¹,Borys Jan²,Hubert Ewa²,Skotnicka Bożena³,Hassmann‐Poznańska Elżbieta³,Sierpińska Teresa⁴,Panasiuk Barbara¹,Schanze Denny⁵,Zenker Martin⁵^ORCID

Affiliation:

1. Department of Clinical GeneticsMedical University of Bialystok Bialystok Poland

2. Department of Maxillo‐Facial SurgeryMedical University of Bialystok Bialystok Poland

3. Paediatric Otolaryngology of Clinic, Medical University of Bialystok Bialystok Poland

4. Department of Prosthetic DentistryMedical University of Bialystok Bialystok Poland

5. Institute of Human Genetics, University Hospital Magdeburg Magdeburg Germany

Funder

Uniwersytet Medyczny w Bialymstoku

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61495

Reference18 articles.

1. Zaburzenia mowy u dziecka z zespołem Frasera [speech disorder in case of child with Fraser syndrome];Branicka T.;Polish Journal of Otolaryngology,1994

2. Oral manifestations and rehabilitation in Fraser syndrome: A case report

3. GorlinR. &GoodmanR.(1977). Atlas of the face in genetic disorders ed 2 Mosby (Saint Louis).

4. Oral healthcare in Fraser syndrome

5. Fraser syndrome in a 96-year-old female

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