Demineralization of Osseous Structures as Presentation of a Rare Genetic Disorder That Is Associated With a High Rate of Mortality

Demineralization of Osseous Structures as Presentation of a Rare Genetic Disorder That Is Associated With a High Rate of Mortality

Conclusions: This case accentuates the importance of considering rare genetic disorders in neonates with complex clinical presentations and affirms the need for comprehensive counseling and education, particularly in consanguineous parents, to address familial implications and guide appropriate inte...

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Main Authors: Adeeba Afrah, Michael A. Finkel, Carolina Fonseca, Marianne Tomiyoshi Asato, M. Susan Jay, Athina Pappas, Shashikala B. Gowda, Allison Jay
Format: Article
Language:English
Published: Wiley 2024-01-01
Series:Case Reports in Endocrinology
Online Access:http://dx.doi.org/10.1155/crie/6063059
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Summary:Conclusions: This case accentuates the importance of considering rare genetic disorders in neonates with complex clinical presentations and affirms the need for comprehensive counseling and education, particularly in consanguineous parents, to address familial implications and guide appropriate interventions.
ISSN:2090-651X

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