Blended Phenotypes in Siblings: Dual Diagnoses of Nicolaides-Baraitser and Craniosynostosis Syndromes. [PDF]
Mol SyndromolBizzari S +7 more
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Surgical treatment and levator muscle protein analysis of congenital ptosis in craniosynostosis: A case-control study. [PDF]
Medicine (Baltimore)Liu Q, Li W, Zhang Y, Xu K, Qiao T.
europepmc +1 more source
Transient facial nerve palsy following bilateral scalp block in an infant undergoing surgery for craniosynostosis. [PDF]
J Anaesthesiol Clin PharmacolSamsudeen MSM +3 more
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From FGFR2 mutations to precision management: a review of prenatal diagnosis and multidisciplinary interventions in apert syndrome. [PDF]
Front PediatrLi H, Shen J, Tang M, Wan S, Zhang S.
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Generation of human induced pluripotent stem cell lines from patients with FGFR2-linked syndromic craniosynostosis. [PDF]
Dis Model MechGijsbertsen M +4 more
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A <i>de novo</i> pathogenic variant in <i>TSHR</i> expanding the phenotype of persistent sporadic congenital non-autoimmune hyperthyroidism: a case report and literature review. [PDF]
Transl PediatrXu W, Liu X.
europepmc +1 more source
Severe Phenotype of De Novo TSHR Activating Pathogenic Variants. [PDF]
Case Rep EndocrinolTorrey AC +6 more
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Sagittal craniosynostosis with Moebius syndrome; case illustration: first case in the literatüre. [PDF]
BMC PediatrKuzucu P +3 more
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Craniosynostosis in Saudi Arabia: A Retrospective Analysis of Subtype Patterns, Syndromic Risk, and Postoperative Outcomes. [PDF]
Plast Reconstr Surg Glob OpenAlhusainan H +7 more
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