Increased Identification of Symptom-Free Males with Pathogenic Variants in the ABCD1 Gene
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Presenting Author - Adelyn Beil, MS, MPH, CGC; Co-Author - Amanda B. Pritchard, MD; Co-Author - Elizabeth Ames, MD PhD;
Meta Tag
Biochemical genetics
Counseling
Metabolic Disorder
Phenotypic delineation of disorders
X-Inactivation/X-Linked Disease
Co-Author Amanda B. Pritchard, MD
Co-Author Elizabeth Ames, MD PhD
Presenting Author Adelyn Beil, MS, MPH, CGC
Keywords
XALD
ABCD1 gene
newborn screening
asymptomatic family members
pathogenic variants
genotype-phenotype correlation
clinical form
cascade testing
symptom-free males
improve patient care

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