Noonan syndrome: improving recognition and diagnosis.
Zenker M, Edouard T, Blair JC, Cappa M.
Arch Dis Child. 2022 Dec;107(12):1073-1078. doi: 10.1136/archdischild-2021-322858. Epub 2022 Mar 4.
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
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J Med Genet. 2023 Nov 27;60(12):1224-1234. doi: 10.1136/jmg-2023-109141.
Short root anomaly associated with Rothmund-Thomson syndrome.
Roinioti TD, Stefanopoulos PK.
Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2007 Jan;103(1):e19-22. doi: 10.1016/j.tripleo.2006.07.021. Epub 2006 Oct 24.
Kabuki syndrome: clinical and molecular characteristics.
Cheon CK, Ko JM.
Korean J Pediatr. 2015 Sep;58(9):317-24. doi: 10.3345/kjp.2015.58.9.317. Epub 2015 Sep 21.
MED12-Related (Neuro)Developmental Disorders: A Question of Causality.
Plassche SV, Brouwer AP.
Genes (Basel). 2021 Apr 28;12(5):663. doi: 10.3390/genes12050663.
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.
Tiosano D, Baris HN, Chen A, Hitzert MM, Schueler M, Gulluni F, Wiesener A, Bergua A, Mory A, Copeland B, Gleeson JG, Rump P, van Meer H, Sival DA, Haucke V, Kriwinsky J, Knaup KX, Reis A, Hauer NN, Hirsch E, Roepman R, Pfundt R, Thiel CT, Wiesener MS, Aslanyan MG, Buchner DA.
PLoS Genet. 2019 Apr 29;15(4):e1008088. doi: 10.1371/journal.pgen.1008088. eCollection 2019 Apr.
The etiology of osteosarcoma.
Ottaviani G, Jaffe N.
Cancer Treat Res. 2009;152:15-32. doi: 10.1007/978-1-4419-0284-9_2.
KBG syndrome: report and follow-up on three unrelated patients observed at different ages.
Serra G, Elefante P, Gazzitano Y, Memo L, Mineo V, Morando C, Nardello R, Piro E, Travan L, Corsello G.
Ital J Pediatr. 2025 Feb 21;51(1):54. doi: 10.1186/s13052-025-01884-1.
Genotypic and Phenotypic Landscape of KBG Syndrome: A Study of 23 Turkish Individuals.
Avci Durmusalioglu E, Isik E, Turkut Tan T, Dogan YC, Nur B, Yeter B, Sanri A, Uludag Alkaya D, Ozturk Yilmaz S, Akalin A, Urel Demir G, Yilmaz A, Sogukpinar M, Yilmaz Bayer O, Giray Bozkaya O, Sezer O, Simsek Kiper PO, Utine GE, Tuysuz B, Cogulu O, Mihci E, Atik T.
Am J Med Genet A. 2025 Oct;197(10):e64128. doi: 10.1002/ajmg.a.64128. Epub 2025 Jun 3.
Peters plus syndrome.
Kapoor S, Mukherjee SB, Arora R, Shroff D.
Indian J Pediatr. 2008 Jun;75(6):635-7. doi: 10.1007/s12098-008-0122-6. Epub 2008 Aug 31.
