A sibling pair with cardiofaciocutaneous syndrome (CFC) secondary to BRAF mutation with unaffected parents—the first cases of gonadal mosaicism in CFC?-Reference-Cited by-同舟云学术

A sibling pair with cardiofaciocutaneous syndrome (CFC) secondary to BRAF mutation with unaffected parents—the first cases of gonadal mosaicism in CFC?

Published:2018-04-28 Issue:7 Volume:176 Page:1637-1640
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Geoghegan Sarah¹,King Graham¹^ORCID,Henchliffe Jennifer²,Ramsden Simon C.²,Barry Raymond J.³,Green Andrew J.⁴,O'Connell Susan M.¹

Affiliation:

1. Department of Paediatrics and Child HealthCork University HospitalCork Ireland

2. St. Mary's Hospital, Manchester Academic Health Science CentreManchester Centre for Genomic MedicineManchester United Kingdom

3. Department of Paediatrics and Child HealthMercy University HospitalCork Ireland

4. Department of Clinical Genetics, Our Lady's Hospital Crumlin, School of Medicine and Medical ScienceUniversity College DublinDublin Ireland

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38725

Reference17 articles.

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

2. A Noonan-like short stature syndrome with sparse hair.

3. Costello syndrome

4. HRAS mutations in Costello syndrome: Detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy

5. Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Molecular Genetics and Prenatal Diagnosis;Genetic Disorders and the Fetus;2021-04-20

2. Familial cardio‐facio‐cutaneous syndrome: Vertical transmission of the BRAF p. G464R pathogenic variant and review of the literature;American Journal of Medical Genetics Part A;2020-12-04