Fibrous dysplasia in cardio‐facio‐cutaneous syndrome: A case report and review of literature-Reference-Cited by-同舟云学术

Fibrous dysplasia in cardio‐facio‐cutaneous syndrome: A case report and review of literature

Published:2022-07-07 Issue:9 Volume:188 Page:2732-2737
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Dong Xiaoao¹^ORCID,Png Nicholas C. Y.²,Fortier Marielle V.²,Lim Jiin Ying¹³,Wong Kenneth P. L.⁴,Choo Jonathan T. L.⁵,Tan Ene Choo⁶^ORCID,Jamuar Saumya Shekhar¹²^ORCID

Affiliation:

1. Department of Paediatrics KK Women's and Children's Hospital Singapore

2. Department of Diagnostic and Interventional Radiology KK Women's and Children's Hospital Singapore

3. SingHealth Duke‐NUS Genomic Medicine Centre Singapore

4. Department of Paediatric Orthopaedics KK Women's and Children's Hospital Singapore

5. Department of Cardiology KK Women's and Children's Hospital Singapore

6. KK Research Centre, KK Women's and Children's Hospital Singapore

Funder

National Medical Research Council

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62879

Reference30 articles.

1. Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: Findings from a nationwide epidemiological survey

2. Fibrous dysplasia: An overview of disease process, indications for surgical management, and a case report;Adetayo O. A.;Eplasty,2015

3. Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations

4. Oculoectodermal syndrome: Report of a new case with a broad clinical spectrum

5. Specific mosaicKRASmutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis

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