Screening of patients with craniosynostosis: Molecular strategy
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference23 articles.
1. Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes
2. Genetic analysis of patients with the Saethre-Chotzen phenotype
3. 2000. Craniosynostosis: Diagnosis, evaluation, and management. 2nd edition. New York: Oxford University Press.
4. Mutations of the TWIST gene in the Saethre-Chotzene syndrome
5. Common Regulation of Growth Arrest and Differentiation of Osteoblasts by Helix-Loop-Helix Factors
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1. Diagnosis and Classification of Craniosynostoses;Fundamentals of Craniofacial Malformations;2023
2. Phenotypic variability of syndromic craniosynostosis caused by c.833G > T in FGFR2 : Clinical and genetic evaluation of eight patients from a five‐generation family;Molecular Genetics & Genomic Medicine;2022-03-02
3. Prenatal Diagnosis of Pfeiffer Syndrome Patient with FGFR2 C.940-1G>C Variant: A Case Report;The Application of Clinical Genetics;2020-08
Prenatal Diagnosis of Pfeiffer Syndrome Patient with FGFR2 C.940-1G>C Variant: A Case Report
4. Clinical study and some molecular features of Mexican patients with syndromic craniosynostosis;Molecular Genetics & Genomic Medicine;2020-06-08
5. Recent Advances in Craniosynostosis;Pediatric Neurology;2019-10
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