Categoría: Articulos
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Exploring the clinical and mutational spectrum of MORC2-associated disorders
BackgroundPathogenic missense variants in the MORC2 gene are associated with two distinct disorders: Charcot-Marie-Tooth disease type 2Z (CMT2Z) and the recently described DIGFAN (developmental delay, impaired growth, dysmorphic facies and axonal neuro…
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Exploring the clinical and mutational spectrum of MORC2-associated disorders
BackgroundPathogenic missense variants in the MORC2 gene are associated with two distinct disorders: Charcot-Marie-Tooth disease type 2Z (CMT2Z) and the recently described DIGFAN (developmental delay, impaired growth, dysmorphic facies and axonal neuro…
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From amino acids to animal models: MAP2K2 mutations and their role in pathogenesis of CFC4 Syndrome
Background Main body Conclusions Graphical A…
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Metabolomic analysis of children with congenital heart disease complicated by neurological developmental abnormalities and CHD7 mutations
ObjectiveThis study aimed to characterize the clinical features and identify serum differential metabolites in children with left-to-right shunt congenital heart disease (CHD) complicated by neurodevelopmental abnormalities (NDA) and harboring CHD7 mut…
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Novel compound heterozygous SIL1 variants associated with Marinesco-Sjögren syndrome in a Chinese family
BackgroundMarinesco-Sjögren syndrome (MSS) is a rare and disabling genetic disorder caused primarily by pathogenic variants in the SIL1 gene. SIL1 functions as a nucleotide exchange factor for the molecular chaperone BiP within the endoplasmic reticulu…
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Unexpected discovery reveals mechanism behind brain tumor development
When researchers at Lund University investigated how UM171, a molecule used to make blood stem cells multiply, works, they made an unexpected connection. The results provide new insights into how one of the most common malignant brain tumors in childre…
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Unexpected discovery reveals mechanism behind brain tumor development
When researchers at Lund University investigated how UM171, a molecule used to make blood stem cells multiply, works, they made an unexpected connection. The results provide new insights into how one of the most common malignant brain tumors in childre…
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The undiagnosed rare disease clinic program of Indiana University School of Medicine: lessons learned from the first 100 cases enrolled (Phase-I pilot)
Background Methods Results Conclusion …
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Interventions targeting challenges experienced by individuals with Pitt Hopkins syndrome: a scoping review
Background Results Conclusions
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Unveiling the depth of the knowledge gap in the Universe of Rare Diseases: the PLUTO mission
Background Methods Results Conclusions …