Phenotypic variability of syndromic craniosynostosis caused by c.833G > T in <i>FGFR2</i> : Clinical and genetic evaluation of eight patients from a five‐generation family-Reference-Cited by-同舟云学术

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Phenotypic variability of syndromic craniosynostosis caused by c.833G > T in FGFR2 : Clinical and genetic evaluation of eight patients from a five‐generation family

Published:2022-03-02 Issue:4 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Wei Xianda¹²,Huang Guori²³,Gui Baoheng¹²,Xie Bobo¹²,Chen Shaoke²³,Fan Xin²³,Chen Yujun²³^ORCID

Affiliation:

1. Center for Medical Genetics and Genomics The Second Affiliated Hospital of Guangxi Medical University Nanning China

2. The Guangxi Health Commission Key Laboratory of Medical Genetics and Genomics The Second Affiliated Hospital of Guangxi Medical University Nanning China

3. Department of Pediatrics The Second Affiliated Hospital of Guangxi Medical University Nanning China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1901

Reference28 articles.

1. Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses

2. Negative autoregulation of fibroblast growth factor receptor 2 expression characterizing cranial development in cases of Apert (P253R mutation) and Pfeiffer (C278F mutation) syndromes and suggesting a basis for differences in their cranial phenotypes

3. Mutation analysis of Crouzon syndrome in Taiwanese patients

4. FGFR1 and FGFR2 Mutations in Pfeiffer Syndrome

5. Screening of patients with craniosynostosis: Molecular strategy

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