Publications by authors named "Carolyn R Raski"
The recurrent chromosome 16p11.2 BP4-BP5 microdeletion (MIM #611913) predisposes to a neurodevelopmental disorder with variable associated congenital anomalies and susceptibility to early-onset obesity. We identified 22 new individuals with proximal 16p11.
View Article and Find Full Text PDFExpanding the phenotype of neurofibromatosis type 1 microdeletion syndrome.
Am J Med Genet C Semin Med Genet
December 2024
Neurofibromatosis type 1 (NF-1) microdeletion syndrome accounts for 5 to 11% of individuals with NF-1. The aim of our study was to characterize a large cohort of individuals with NF-1 microdeletion syndrome and expand its natural history. We conducted a retrospective chart review from 1994 to 2024 of individuals with NF-1 microdeletion syndrome followed at two large Neurofibromatosis Clinics.
View Article and Find Full Text PDFArticle Synopsis
- - Dandy-Walker malformation (DWM) is usually sporadic, but some genetic disorders, including those related to the ABL1 gene, have been linked to it.
- - The case study discusses a female with a new mutation in ABL1 who was diagnosed with DWM before birth.
- - A review of existing literature revealed only one other case of DWM associated with an ABL1-related disorder, indicating a potential connection between the two.
Propionic acidemia is a metabolic condition with multiple serious acute and chronic presentations that require strict monitoring. Literature on liver function abnormalities in propionic acidemia is scarce, and the mechanism of liver impairment in this condition remains unclear. Currently, there is no indication for liver-function tests during follow-up and their clinical or prognostic utility is unknown.
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