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附錄(APPENDIX)

基因套組(genetic panel)範例:其他代碼。套組內容依實驗室而異。

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以下為原文所列參考文獻,保留原始書目格式:

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of occult spinal dysraphism in children: a review of 54 cases. Arch Dermatol. 2004;140:1109–1115.14. Chern JJ, Kirkman JL, Shannon CN, et al. Use of lumbar classification: recommendations from the International Society for the Study of Vascular Anomalies. Pediatrics. 2015;136:e203–e214.3. ISSVA Classification of Vascular Anomalies, 2018.

A prospective study of risk for Sturge-Weber syndrome in children with upper facial port-wine stain. J Am Acad Dermatol. 2015;72:473–480.26. Sudarsanam A, Ardern-Holmes SL. Sturge-Weber ultrasonography to detect occult spinal dysraphism. J Neurosurg Pediatr. 2012;9:274–279.15. Jordan M, Carmignac V, Sorlin A, et al. Reverse pheno- syndrome: from the past to the present. Eur J Paediatr Neurol. 2014;18:257–266.27. Miller RS, Ball KL, Comi AM, Germain-Lee EL. Growth typing in patients with skin capillary malformations and mosaic GNAQ or GNA11 mutations defines a clinical spectrum with genotype-phenotype correlation. J Invest Dermatol. 2020;140:1106–1110.16. Shirley MD, Tang H, Gallione CJ, et al. Sturge-Weber

International Society for the Study of Vascular Anomalies. Available at <https://issva.org/ classification>.
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hormone deficiency in Sturge-Weber syndrome. Arch Dis Child. 2006;91:340–341.28. Mazereeuw-Hautier J, Syed S, Harper J. Bilateral facial capillary malformation associated with eye and brain abnormalities. Arch Dermatol. 2006;142:994–998.29. Boos MD, Bozarth XL, Sidbury R, et al. Forehead location syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med. 2013;368:1971–1979.17. Happle R. Capillary malformations: a classification from genetics toward models for therapeutic trials. Cold Spring Harb Perspect Med. 2012;2:pii: a009688.6. Limaye N, Wouters V, Uebelhoer M, et al. Somatic and large segmental pattern of facial port-wine stains predict risk of Sturge-Weber syndrome. J Am Acad Dermatol. 2020;83:1110–1117.30. Sabeti S, Ball KL, Bhattacharya SK, et al. Consensus using specific names for specific skin disorders. J Eur Acad Dermatol Venereol. 2015;29:2295–2305.18. Siegel DH, Cottrell CE, Streicher JL, et al. Analyzing mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations. Nat Genet. 2009;41:118–124.7. Soblet J, Kangas J, Nätynki M, et al. Blue rubber bleb the genetic spectrum of vascular anomalies with overgrowth via cancer genomics. J Invest Dermatol. 2018;138:957–967.19. Klapman MH, Yao JF. Thickening and nodules in nevus (BRBN) syndrome is caused by somatic TEK (TIE2) mutations. J Invest Dermatol. 2017;137:207–216.8. Irrthum A, Brouillard P, Enjolras O, et al. Linkage disequi- statement for the management and treatment of Sturge- Weber syndrome: neurology, neuroimaging, and ophthalmology recommendations. Pediatr Neurol. 2021;121:59–66.31. Bay MJ, Kossoff EH, Lehmann CU, et al. Survey of port-wine stains. J Am Acad Dermatol. 2001;44:300–302.20. Millán-Cayetano JF, Del Boz J, García-Montero P, de aspirin use in Sturge-Weber syndrome. J Child Neurol. 2011;26:692–702.32. Lance EI, Sreenivasan AK, Zabel TA, et al. Aspirin use

Troya-Martín M. Acquired port-wine stain (Fegeler syndrome): a report of 3 cases. Actas Dermosifiliogr. 2017;108:954–955.21. Nijhawan RI, Bard S, Blyumin M, et al. Early localized librium narrows locus for venous malformation with glomus cells (VMGLOM) to a single 1.48 Mbp YAC. Eur J Hum Genet. 2001;9:34–38.9. Eerola L, Boon LM, Mulliken JB, et al. Capillary malfor- in Sturge-Weber syndrome: side effects and clinical outcomes. J Child Neurol. 2013;28:213–218.33. Ewen JB, Kossoff EH, Crone NE, et al. Use of quantitative morphea mimicking an acquired port-wine stain. J Am Acad Dermatol. 2011;64:779–782.22. Fernández-Guarino M, Boixeda P, de Las Heras E, et al.

mation-arteriovenous malformation: a new clinical and genetic disorder caused by RASA1 mutations. Am J Hum Genet. 2003;73:1240–1249.10. Rozas-Muñoz E, Frieden IJ, Roé E, et al. Vascular stains:

EEG in infants with port-wine birthmark to assess for Sturge-Weber brain involvement. Clin Neurophysiol. 2009;120:1433–1440.34. Enjolras O, Chapot R, Merland JJ. Vascular anomalies

Phakomatosis pigmentovascularis: clinical findings in 15 patients and review of the literature. J Am Acad Dermatol. 2008;58:88–93.23. Happle R. Phacomatosis pigmentovascularis revisited proposal for a clinical classification to improve diagnosis and management. Pediatr Dermatol. 2016;33:570–584.11. Kanada KN, Merin MR, Munden A, et al. A prospective and the growth of limbs: a review. J Pediatr Orthop B. 2004;13:349–357.35. Lee MS, Liang MG, Mulliken JB. Diffuse capillary malfor- and reclassified. Arch Dermatol. 2005;141:385–388.23a. Polubothu S, Bender N, Muthiah S, et al. PTPN11 study of cutaneous findings in newborns in the United States: correlation with race, ethnicity, and gestational status using updated classification and nomenclature. J Pediatr. 2012;161:240–245.12. Juern AM, Glick ZR, Drolet BA, Frieden IJ. Nevus simplex:

mation with overgrowth: a clinical subtype of vascular anomalies with hypertrophy. J Am Acad Dermatol. 2013;69:589–594.36. Couto JA, Ayturk UM, Konczyk DJ, et al. A somatic GNA11 mosaicism causes a spectrum of pigmentary and vascular neurocutaneous disorders and predisposes to melanoma. J Invest Dermatol. 2023;143:1043–1051.24. Waelchli R, Aylett SE, Robinson K, et al. New vascular a reconsideration of nomenclature, sites of involvement, and disease associations. J Am Acad Dermatol. 2010;63:805–814.

mutation is associated with extremity capillary malformation and overgrowth. Angiogenesis. 2017;20:303–306.37. Goss JA, Konczyk DJ, Smits P, et al. Diffuse capillary classification of port wine stains: improving prediction of Sturge-Weber risk. Br J Dermatol. 2014;171: 861–867.

malformation with overgrowth contains somatic PIK3CA variants. Clin Genet. 2020;97:736–740.