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Aarskog syndrome相关文献:
FGD1-related Aarskog-Scott syndrome: Identification of four novel variations and a literature review of clinical and molecular aspects.
Li S, Tian A, Wen Y, Gu W, Li W, Qiao X, Zhang C, Luo X.
Eur J Pediatr. 2024 May;183(5):2257-2272. doi: 10.1007/s00431-024-05484-9. Epub 2024 Feb 27.
PMID:38411716
Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations.
Jeanne M, Ronce N, Remizé S, Arpin S, Baujat G, Breton S, Petit F, Vanlerberghe C, Coeslier-Dieux A, Manouvrier-Hanu S, Vincent-Delorme C, Khau Van Kien P, Van-Gils J, Quélin C, Pasquier L, Odent S, Demurger F, Laffargue F, Francannet C, Martin-Coignard D, Afenjar A, Whalen S, Verloes A, Capri Y, Delahaye A, Plaisancié J, Labrune P, Destree A, Maystadt I, Ciorna Monferrato V, Isidor B, Vincent M, Jean Marçais N, Nambot S, Schaefer E, El Chehadeh S, Lespinasse J, Collignon P, Busa T, Philip N, Willems M, Planes M, Vanakker OM, Lambert L, Leheup B, Mathieu-Dramard M, Morin G, Dieterich K, Ginglinger E, Bayat A, Balasubramanian M, Dauriat B, Haye D, Amiel J, Rio M, Cormier-Daire V, Toutain A.
J Med Genet. 2025 Mar 20;62(4):258-267. doi: 10.1136/jmg-2022-108868.
PMID:39798962
[Aarskog syndrome].
Matsuo M.
Ryoikibetsu Shokogun Shirizu. 2001;(33):83-4.
PMID:11462708
Identifying Aarskog Syndrome.
Ahmed A, Mufeed A, Ramachamparambathu AK, Hasoon U.
J Clin Diagn Res. 2016 Dec;10(12):ZD09-ZD11. doi: 10.7860/JCDR/2016/22180.8982. Epub 2016 Dec 1.
PMID:28209013
FGD1-Related Faciogenital Dysplasia (Aarskog-Scott Syndrome).
Jeanne M.
2026 Feb 12. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
PMID:41704117
Aarskog-scott syndrome (AAS): a case report.
Braiotta F, Paglia M, Mummolo S.
Eur J Paediatr Dent. 2023 Sep 1;24(3):238 - 240. doi: 10.23804/ejpd.2023.1953. Epub 2023 Jun 1.
PMID:37337880
Aarskog syndrome.
Shinkawa T, Yamauchi Y, Osada Y, Ishisawa N.
Urology. 1983 Dec;22(6):624-6. doi: 10.1016/0090-4295(83)90311-4.
PMID:6649231
Aarskog syndrome.
Porteous ME, Goudie DR.
J Med Genet. 1991 Jan;28(1):44-7. doi: 10.1136/jmg.28.1.44.
PMID:1999832
Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients.
Turgut GT, Altunoglu U, Avcı Ş, Kalaycı T, Aslanger AD, Karaman V, Uyguner ZO, Kayserili H.
Clin Genet. 2025 Apr 2;108(3):334-46. doi: 10.1111/cge.14744. Online ahead of print.
PMID:40170577
The Aarskog syndrome.
Furukawa CT, Hall BD, Smith DW.
J Pediatr. 1972 Dec;81(6):1117-22. doi: 10.1016/s0022-3476(72)80242-7.
PMID:4643030
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