Ashley Lahr
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View article: Case Report: Biallelic BRCA1 pathogenic alterations in a Fanconi Anemia patient and clinical implications of variant location
Case Report: Biallelic BRCA1 pathogenic alterations in a Fanconi Anemia patient and clinical implications of variant location Open
Pathogenic alterations in BRCA1 are associated with autosomal dominant breast and ovarian cancer and autosomal recessive Fanconi Anemia Subtype S (FA-S). FA-S accounts for <1% of all reported cases of FA with only ten patients identifie…
View article: Overview of Newborn Screening of Lysosomal Storage Diseases for Pediatric Care Providers
Overview of Newborn Screening of Lysosomal Storage Diseases for Pediatric Care Providers Open
Lysosomal storage disorders (LSD) are caused by enzymatic failure to degrade specific cellular byproducts of metabolism within the lysosome. They have a wide range of presentations involving multiple body systems and can manifest from infa…
View article: P307: Atypical presentation of central precocious puberty in a patient with RHOA-related disorder
P307: Atypical presentation of central precocious puberty in a patient with RHOA-related disorder Open
View article: De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities
De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities Open