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Article

FKBP14 kyphoscoliotic Ehlers-Danlos syndrome misdiagnosed as Larsen syndrome: a case report.

Cold Spring Harbor molecular case studies - 1 Jun 2023

Wiegand Amy, Kastury Rama, Neogi Arpita, Mani Arya, Bale Allen, Cox Allison

Abstract excerpt

Hereditary connective tissue disorders have overlapping phenotypes, particularly in regard to musculoskeletal features. This contributes to the challenge of phenotype-based clinical diagnoses. However, some hereditary connective tissue disorders have distinct cardiovascular manifestations that require early intervention and specific management. Molecular testing has increased the ability to categorize and...

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PMID: 37433679
DOI: 10.1101/mcs.a006281
PMCID: PMC10393184

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