2023
FKBP14 kyphoscoliotic Ehlers–Danlos syndrome misdiagnosed as Larsen syndrome: a case report
Wiegand A, Kastury R, Neogi A, Mani A, Bale A, Cox A. FKBP14 kyphoscoliotic Ehlers–Danlos syndrome misdiagnosed as Larsen syndrome: a case report. Molecular Case Studies 2023, 9: a006281. PMID: 37433679, PMCID: PMC10393184, DOI: 10.1101/mcs.a006281.Peer-Reviewed Original ResearchMeSH KeywordsAdultDiagnostic ErrorsEhlers-Danlos SyndromeFemaleGenotypeHumansNeoplastic Syndromes, HereditaryOsteochondrodysplasiasPeptidylprolyl IsomeraseConceptsHereditary connective tissue disordersConnective tissue disordersKyphoscoliotic Ehlers-Danlos syndromeTissue disordersEhlers-Danlos syndromeLarsen syndromeClinical diagnosisGenetic testingHereditary cancer predisposition syndromesSignificant vascular eventsPremenopausal breast cancerPast medical historyHomozygous pathogenic variantCancer predisposition syndromeWhole-exome sequencingMolecular genetic testingCardiovascular eventsCarotid dissectionVascular eventsCardiovascular manifestationsCase reportMedical historyRecent diagnosisBreast cancerEarly diagnosis
2011
Hereditary Melanoma
Bonadies DC, Bale AE. Hereditary Melanoma. Current Problems In Cancer 2011, 35: 162-172. PMID: 21911180, DOI: 10.1016/j.currproblcancer.2011.07.001.Peer-Reviewed Original ResearchFemaleGenes, Tumor SuppressorGenetic CounselingGenetic Predisposition to DiseaseHumansMaleMelanomaMutationNeoplastic Syndromes, HereditarySkin NeoplasmsBasal Cell Carcinoma Arising in a Nevus Sebaceus in a Child with Facial Trichoepitheliomas
Jensen AL, Florell SR, Vanderhooft SL, Bale AE. Basal Cell Carcinoma Arising in a Nevus Sebaceus in a Child with Facial Trichoepitheliomas. Pediatric Dermatology 2011, 28: 138-141. PMID: 20738793, DOI: 10.1111/j.1525-1470.2010.01227.x.Peer-Reviewed Original ResearchMeSH KeywordsCarcinoma, Basal CellChildFacial NeoplasmsHamartomaHumansMaleNeoplastic Syndromes, HereditarySebaceous Gland DiseasesSkin Neoplasms