Autopsy Case of Pfeiffer Syndrome Type 2, a Phenotype of Fibroblast Growth Factor Receptor-Associated Craniosynostosis Syndromes, with Tracheal Cartilage Sleeve and Abnormal Hyperplasia of Bronchial Cartilages. [PDF]
Am J Case Rep, 2021 Katsuragi SY +5 more
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Clinical and Genetic Studies of the First Monozygotic Twins with Pfeiffer Syndrome. [PDF]
Genes (Basel), 2022 Kantaputra PN +9 more
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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. [PDF]
Mol Genet Genomic Med, 2022 Wei X +6 more
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A novel FGFR2 (S137W) mutation resulting in Apert syndrome: A case report. [PDF]
Medicine (Baltimore), 2020 Shi Q +6 more
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The limits of clinical findings in similar phenotypes, from Carpenter to ATRX syndrome using a whole exome sequencing approach: a case review. [PDF]
Hum Genomics, 2021 Sáenz SS +3 more
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Evaluation of dental maturity in Muenke syndrome, Saethre-Chotzen syndrome, and TCF12-related craniosynostosis. [PDF]
Eur J Orthod, 2022 Choi TM +5 more
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Tracheal cartilaginous sleeve diagnosed on ultrasound in a child with Pfeiffer syndrome. [PDF]
Int J Pediatr Otorhinolaryngol, 2020 Loy KA, Lam AS, Otjen JP, Dahl JP.
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Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1. [PDF]
J Med Genet, 2023 Pagnamenta AT +11 more
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Prenatal Diagnosis of Pfeiffer Syndrome Patient with FGFR2 C.940-1G>C Variant: A Case Report. [PDF]
Appl Clin Genet, 2020 Torres-Canchala L +5 more
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Differential diagnosis of syndromic craniosynostosis: a case series. [PDF]
Arch Gynecol Obstet, 2022 Casteleyn T +4 more
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