2025
Craniosynostosis among children with X-linked hypophosphatemia: A systematic review and meta-analysis
Fisch S, Tudor A, Benchekroun E, Landsberg W, Feldstein N, Lamb M, Carpenter T, Rundle A, Jacobson J, Neugut A, Freedberg D. Craniosynostosis among children with X-linked hypophosphatemia: A systematic review and meta-analysis. Bone 2025, 196: 117488. PMID: 40220947, DOI: 10.1016/j.bone.2025.117488.Peer-Reviewed Original ResearchX-linked hypophosphatemiaPrevalence of craniosynostosisPooled prevalenceSystematic reviewMeta-analysisRandom-effects modelWeb of SciencePediatric populationSkull abnormalitiesCohort studyImpaired phosphate reabsorptionElevated FGF23 levelsPrevalenceFemale predominanceCase seriesFGF23 levelsPhosphate reabsorptionGene variantsChildrenIncreased vigilanceCraniosynostosisAbnormal bone growthGenetic disordersHypophosphatemiaAbnormalities
2023
Excluding Digenic Inheritance of PGAP2 and PGAP3 Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with PGAP2 Gene Variants in Hyperphosphatasia with Mental Retardation Syndrome-3 (HPMRS3)
Thompson M, Li X, Spencer-Manzon M, Andrade D, Murakami Y, Kinoshita T, Carpenter T. Excluding Digenic Inheritance of PGAP2 and PGAP3 Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with PGAP2 Gene Variants in Hyperphosphatasia with Mental Retardation Syndrome-3 (HPMRS3). Genes 2023, 14: 359. PMID: 36833286, PMCID: PMC9957281, DOI: 10.3390/genes14020359.Peer-Reviewed Original ResearchConceptsDigenic inheritanceDeficient CHO cell lineCell linesGPI deficiency disordersDeficient cell linesCHO cell linesBiosynthesis genesGPI attachmentMabry syndromeProtein geneStrong promoterCHO cellsUnknown significanceGenesInheritanceGene variantsAutosomal recessive inheritanceHomozygous variantNeurologic deficitsVariantsCase reportRecessive inheritanceSyndrome patientsCD55 expressionPGAP2
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