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

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 requi...

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Detalles Bibliográficos
Autores principales: Wiegand, Amy, Kastury, Rama, Neogi, Arpita, Mani, Arya, Bale, Allen, Cox, Allison
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2023
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10393184/
https://www.ncbi.nlm.nih.gov/pubmed/37433679
http://dx.doi.org/10.1101/mcs.a006281

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