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Diagnostic value of multiple café-au-lait macules for neurofibromatosis 1 in Chinese children.
J Dermatol. 2016 May;43(5):537-42. doi: 10.1111/1346-8138.13169. Epub 2015 Oct 13.
J Dermatol. 2016.
PMID: 26458495
The appearance of multiple cafe-au-lait macules is an early sign of the condition, which often alert physicians to follow up and further examine the patient for the possibility of NF1. In order to determine the predictive value of multiple cafe-au-lait macules at early age …
The appearance of multiple cafe-au-lait macules is an early sign of the condition, which often alert physicians to follow up and further exa …
Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules.
Castellanos E, Rosas I, Negro A, Gel B, Alibés A, Baena N, Pineda M, Pi G, Pintos G, Salvador H, Lázaro C, Blanco I, Vilageliu L, Brems H, Grinberg D, Legius E, Serra E.
Castellanos E, et al.
Clin Genet. 2020 Feb;97(2):264-275. doi: 10.1111/cge.13649. Epub 2019 Dec 12.
Clin Genet. 2020.
PMID: 31573083
The syndromes that can converge in these inconclusive phenotypes have different clinical courses. In this context, an early genetic testing has been proposed to be clinically useful to manage these patients. ...
The syndromes that can converge in these inconclusive phenotypes have different clinical courses. In this context, an early genetic t …
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Mutated SON putatively causes a cancer syndrome comprising high-risk medulloblastoma combined with café-au-lait spots.
Chiu C, Loth S, Kuhlen M, Ginzel S, Schaper J, Rosenbaum T, Pietsch T, Borkhardt A, Hoell JI.
Chiu C, et al.
Fam Cancer. 2019 Jul;18(3):353-358. doi: 10.1007/s10689-019-00121-z.
Fam Cancer. 2019.
PMID: 30680470
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