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Select item 108953801.

Novel variants in TNRC6B cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, café‐au‐lait spots, and metabolic abnormality

Qi Yang, Shan Ou, Xunzhao Zhou, Sheng Yi, Li Lin, Shang Yi, Shujie Zhang, Zailong Qin, Jingsi Luo

Mol Genet Genomic Med. 2024 Feb; 12(2): e2408. Published online 2024 Feb 26. doi: 10.1002/mgg3.2408

PMCID:: PMC10895380

Abstract Article PDF–1.1M

Select item 91194182.

Congenital grouped albinotic spots of the retinal pigment epithelium in a patient with hemihypertrophy and café au lait spots

Eugenia C. White, Jesse D. Sengillo, Galaxy Y. Cho, Mathieu F. Bakhoum, Stephen H. Tsang

Doc Ophthalmol. Author manuscript; available in PMC 2022 May 19.

Published in final edited form as: Doc Ophthalmol. 2018 Aug; 137(1): 9–14. Published online 2018 May 16. doi: 10.1007/s10633-018-9639-9

PMCID:: PMC9119418

Abstract Article PDF–1.0M

Select item 87152923.

Early presentation of neurofibromatosis type I patient with clitoromegaly and café au lait spots: A case report

Ayman Khushaim, Atheer Albaradi, Abdulrahman Alsalim

Radiol Case Rep. 2022 Mar; 17(3): 667–669. Published online 2021 Dec 23. doi: 10.1016/j.radcr.2021.11.071

PMCID:: PMC8715292

Abstract Article PDF–806K

Select item 67716964.

Treatment of Café‐Au‐Lait Spots Using Q‐Switched Alexandrite Laser: Analysis of Clinical Characteristics of 471 Children in Mainland China

Bin Zhang, Yan Chu, Zigang Xu, Yujuan Sun, Li Li, Xiaofeng Han, Chen Wang, Li Wei, Yuanxiang Liu, Lin Ma

Lasers Surg Med. 2019 Oct; 51(8): 694–700. Published online 2019 May 25. doi: 10.1002/lsm.23097

PMCID:: PMC6771696

Abstract Article PDF–411K

Select item 55084705.

Successful surgical management of bilateral epiretinal membrane in a child with only café-au-lait spots

Swetha Sara Philip, Thomas Kuriakose, Geeta Chacko

Indian J Ophthalmol. 2017 Jun; 65(6): 531–533. doi: 10.4103/ijo.IJO_649_16

PMCID:: PMC5508470

Abstract Article PDF–911K

Select item 49954246.

Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene

Fatma Mujgan Sonmez, Eyyup Uctepe, Mehmet Gunduz, Zeliha Gormez, Seval Erpolat, Murat Oznur, Mahmut Samil Sagiroglu, Huseyin Demirci, Esra Gunduz

Intractable Rare Dis Res. 2016 Aug; 5(3): 222–226. doi: 10.5582/irdr.2014.01040

PMCID:: PMC4995424

Abstract Article PDF–411K

Select item 49105567.

Prevalence of Café-au-Lait Spots in children with solid tumors

Anna Claudia Evangelista dos Santos, Benjamin Heck, Beatriz De Camargo, Fernando Regla Vargas

Genet Mol Biol. 2016 Apr-Jun; 39(2): 232–238. Published online 2016 May 24. doi: 10.1590/1678-4685-GMB-2015-0024

PMCID:: PMC4910556

Abstract Article PDF–449K

Select item 16277498.

Café-au-lait spots in schoolchildren.

R G Burwell, N J James, D I Johnston

Arch Dis Child. 1982 Aug; 57(8): 631–632. doi: 10.1136/adc.57.8.631

PMCID:: PMC1627749

Summary Page Browse PDF–302K

Select item 10517849.

Familial café au lait spots: a variant of neurofibromatosis type 1.

D Abeliovich, Z Gelman-Kohan, S Silverstein, I Lerer, J Chemke, S Merin, J Zlotogora

J Med Genet. 1995 Dec; 32(12): 985–986. doi: 10.1136/jmg.32.12.985

PMCID:: PMC1051784

Summary Page Browse PDF–389K

Select item 1096101110.

KIT Mutation Associated with Depigmented Patches Regression and Multiple Café-au-lait Macules Development in a Patient with Piebaldism: A Case Report

Fatimah Mohammad Budair

Clin Cosmet Investig Dermatol. 2024; 17: 713–716. Published online 2024 Mar 20. doi: 10.2147/CCID.S449691

PMCID:: PMC10961011

Abstract Article PDF–491K

Select item 1053774911.

Perturbations of Glutathione and Sphingosine Metabolites in Port Wine Birthmark Patient-Derived Induced Pluripotent Stem Cells

Vi Nguyen, Jacob Kravitz, Chao Gao, Marcelo L. Hochman, Dehao Meng, Dongbao Chen, Yunguan Wang, Anil G. Jegga, J Stuart Nelson, Wenbin Tan

Metabolites. 2023 Sep; 13(9): 983. Published online 2023 Aug 31. doi: 10.3390/metabo13090983

PMCID:: PMC10537749

Abstract Article PDF–6.7M

Select item 1047362012.

Supporting materials: Endothelial cells differentiated from patient dermal fibroblast-derived induced pluripotent stem cells resemble vascular malformations of Port Wine Birthmark

Vi Nguyen, Chao Gao, Marcelo L Hochman, Jacob Kravitz, Elliott H Chen, Harold I Friedman, Camilla F Wenceslau, Dongbao Chen, Yunguan Wang, J Stuart Nelson, Anil G. Jegga, Wenbin Tan

Version 2. bioRxiv. Preprint. 2023 Aug 24. doi: 10.1101/2023.07.02.547408

Published in:: Br J Dermatol. 2023 Dec; 189(6): 780–783.

PMCID:: PMC10473620

Abstract Article PDF–3.1M

Select item 1046029313.

Development of Café-Au-Lait-Macule Lesions in a Patient After Dupilumab Therapy for Atopic Dermatitis

Afnan Hasanain, Abdulellah I Aleissa, Wasan AlQurashi

Cureus. 2023 Jul; 15(7): e42581. Published online 2023 Jul 27. doi: 10.7759/cureus.42581

PMCID:: PMC10460293

Abstract Article PDF–259K

Select item 1045248314.

Travel Distance and Time to Pulsed Dye Laser Treatment for Port-Wine Birthmark in the Pediatric Population

Joseph Masison, Vijay Kodumudi, Eric J. Beltrami, Hao Feng

J Clin Aesthet Dermatol. 2023 Aug; 16(8): 44–46.

PMCID:: PMC10452483

Abstract Article PDF–460K

Select item 1037012615.

Perturbations of glutathione and sphingosine metabolites in Port Wine Birthmark patient-derived induced pluripotent stem cells

Vi Nguyen, Jacob Kravitz, Chao Gao, Marcelo L. Hochman, Dehao Meng, Dongbao Chen, Yunguan Wang, Anil G. Jegga, J Stuart Nelson, Wenbin Tan

Version 1. bioRxiv. Preprint. 2023 Jul 19. doi: 10.1101/2023.07.18.549581

Published in:: Metabolites. 2023 Sep; 13(9): 983.

PMCID:: PMC10370126

Abstract Article PDF–2.1M

Select item 1031513716.

Four Cases of Port-Wine Birthmark Treated with Hematoporphyrin Monomethyl Ether-Mediated Photodynamic Therapy After Radioactive Nuclide Patch Therapy

Xu Liu, Lihua Yang, Qian Zhang, Fengjuan Yang, Xian Jiang

Clin Cosmet Investig Dermatol. 2023; 16: 1667–1675. Published online 2023 Jun 28. doi: 10.2147/CCID.S418019

PMCID:: PMC10315137

Abstract Article PDF–2.0M

Select item 1025946117.

Characteristics of Café-au-lait Macules and their Association with the Neurofibromatosis type I Genotype in a Cohort of Greek Children

Lamprini NASI, Alexios ALEXOPOULOS, Eleftheria KOKKINOU, Kleoniki ROKA, Maria TZETIS, Maria TSIPI, Talia KAKOUROU, Christina KANAKA-GANTENBEIN, George CHROUSOS, Antonis KATTAMIS, Roser PONS, the Agia Sophia Neurocutaneous Group

Acta Derm Venereol. 2023; 103: 5758. Published online 2023 Jun 5. doi: 10.2340/actadv.v103.5758