Arterial Tortuosity Syndrome: Keys to Early Diagnosis and Report of a New Mutation.
Publication
, Journal Article
Tunks, RD; Miranda, K; Hackett, G; Aliu, E
Published in: CASE (Phila)
January 2025
• ATS can be discovered by high-quality fetal imaging. • Postnatal genetic testing is required for confirmation of the diagnosis. • A homozygous variant in SLC2A10 (c.173 C > T; p.Ala58Val) is newly described. • Multidisciplinary follow-up for children with ATS is essential.
Duke Scholars
Published In
CASE (Phila)
DOI
EISSN
2468-6441
Publication Date
January 2025
Volume
9
Issue
1
Start / End Page
30 / 35
Location
United States
Citation
APA
Chicago
ICMJE
MLA
NLM
Tunks, R. D., Miranda, K., Hackett, G., & Aliu, E. (2025). Arterial Tortuosity Syndrome: Keys to Early Diagnosis and Report of a New Mutation. CASE (Phila), 9(1), 30–35. https://doi.org/10.1016/j.case.2024.09.009
Tunks, Robert D., Kayla Miranda, Gretchen Hackett, and Ermal Aliu. “Arterial Tortuosity Syndrome: Keys to Early Diagnosis and Report of a New Mutation.” CASE (Phila) 9, no. 1 (January 2025): 30–35. https://doi.org/10.1016/j.case.2024.09.009.
Tunks RD, Miranda K, Hackett G, Aliu E. Arterial Tortuosity Syndrome: Keys to Early Diagnosis and Report of a New Mutation. CASE (Phila). 2025 Jan;9(1):30–5.
Tunks, Robert D., et al. “Arterial Tortuosity Syndrome: Keys to Early Diagnosis and Report of a New Mutation.” CASE (Phila), vol. 9, no. 1, Jan. 2025, pp. 30–35. Pubmed, doi:10.1016/j.case.2024.09.009.
Tunks RD, Miranda K, Hackett G, Aliu E. Arterial Tortuosity Syndrome: Keys to Early Diagnosis and Report of a New Mutation. CASE (Phila). 2025 Jan;9(1):30–35.
Published In
CASE (Phila)
DOI
EISSN
2468-6441
Publication Date
January 2025
Volume
9
Issue
1
Start / End Page
30 / 35
Location
United States