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The KBG syndrome.
Smithson SF, Thompson EM, McKinnon AG, Smith IS, Winter RM. Smithson SF, et al. Among authors: winter rm. Clin Dysmorphol. 2000 Apr;9(2):87-91. doi: 10.1097/00019605-200009020-00002. Clin Dysmorphol. 2000. PMID: 10826617 Review.
Another family with the 'Habsburg jaw'.
Thompson EM, Winter RM. Thompson EM, et al. Among authors: winter rm. J Med Genet. 1988 Dec;25(12):838-42. doi: 10.1136/jmg.25.12.838. J Med Genet. 1988. PMID: 3070045 Free PMC article.
Diagnosis in dysmorphology: clues from the skin.
Smithson SF, Winter RM. Smithson SF, et al. Among authors: winter rm. Br J Dermatol. 2004 Nov;151(5):953-60. doi: 10.1111/j.1365-2133.2004.06266.x. Br J Dermatol. 2004. PMID: 15541072 Review.
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S; Childhood Overgrowth Consortium; Rahman N. Tatton-Brown K, et al. Am J Med Genet A. 2013 Dec;161A(12):2972-80. doi: 10.1002/ajmg.a.36229. Epub 2013 Nov 8. Am J Med Genet A. 2013. PMID: 24214728 Free article.
Kohlschutter syndrome in siblings.
Donnai D, Tomlin PI, Winter RM. Donnai D, et al. Among authors: winter rm. Clin Dysmorphol. 2005 Jul;14(3):123-126. Clin Dysmorphol. 2005. PMID: 15930900
A case with blepharophimosis resembling Ohdo syndrome.
Maat-Kievit JA, Milla PJ, Collins JE, Baraitser M, Winter RM. Maat-Kievit JA, et al. Among authors: winter rm. Clin Dysmorphol. 1994 Apr;3(2):125-7. Clin Dysmorphol. 1994. PMID: 8055131
248 results