Kounis Syndrome: An Entity One Should Not Forget. [PDF]
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Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: A Simple Remedy for Challenging Cases. [PDF]
Cureus, 2022 Alkhairy S, Saeed H, Saeed S.
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Functional analysis of a novel FOXL2 mutation in blepharophimosis, ptosis, and epicanthus inversus syndrome type II and elucidation of the genotype-phenotype correlation. [PDF]
Hum GenomicsShen B +9 more
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Identification and functional analyses of a novel FOXL2 pathogenic variant causing blepharophimosis, ptosis, and epicanthus inversus syndrome. [PDF]
Int J Ophthalmol, 2023 Yan YC, Zhou L, Fan JC.
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Reprise traductionnelle en aval d’un codon stop prématuré et agrégation protéique [PDF]
, 2006 Moumné, Lara, Veitia, Reiner A.
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A rare encounter: Navigating airway challenges in Van den Ende-Gupta syndrome. [PDF]
J Anaesthesiol Clin PharmacolJha S, Ayub A, Ashwin M, Vignesh V.
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A Retrospective Analysis of the Efficacy of Silicone Sling in the Management of Severe Congenital Ptosis. [PDF]
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From Genes to Lives: Integrating the Complexities of Primary Ovarian Insufficiency. [PDF]
Int J Mol SciAbujaber R, Henry-Smith C, Sharma S.
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The First Korean Case with Cardiac, Facial, and Digital Anomalies with Developmental Delay Caused by De Novo TRAF7 p.Arg655Gln Variant. [PDF]
Int J Mol SciKim KH, Han JY, Park J, Cho JS.
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Blended Phenotypes in Siblings: Dual Diagnoses of Nicolaides-Baraitser and Craniosynostosis Syndromes. [PDF]
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