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Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome).
Amiel J, Watkin PM, Tassabehji M, Read AP, Winter RM. Amiel J, et al. Clin Dysmorphol. 1998 Jan;7(1):17-20. Clin Dysmorphol. 1998. PMID: 9546825
Kohlschutter syndrome in siblings.
Donnai D, Tomlin PI, Winter RM. Donnai D, et al. Among authors: winter rm. Clin Dysmorphol. 2005 Jul;14(3):123-6. doi: 10.1097/00019605-200507000-00003. Clin Dysmorphol. 2005. PMID: 15930900
Hemifacial microsomia, external auditory canal atresia, deafness and Mullerian anomalies associated with acro-osteolysis: a new autosomal recessive syndrome?
Brady AF, Winter RM, Wilson LC, Tatnall FM, Sheridan RJ, Garrett C. Brady AF, et al. Clin Dysmorphol. 2002 Jul;11(3):155-61. doi: 10.1097/00019605-200207000-00001. Clin Dysmorphol. 2002. PMID: 12072792
The external auditory canal stenosis and Mullerian anomalies in this family are similar to those reported by Winter et al. [(1968) J Pediatr 72 : 88-93] and overlap with those found in Goldenhar syndrome and Mullerian duct/renal aplasia/cervicothoracic somite dysplasia (MU …
The external auditory canal stenosis and Mullerian anomalies in this family are similar to those reported by Winter et al. [(1968) J …
Rapadilino syndrome--a non-Finnish case.
Kant SG, Baraitser M, Milla PJ, Winter RM. Kant SG, et al. Clin Dysmorphol. 1998 Apr;7(2):135-8. doi: 10.1097/00019605-199804000-00011. Clin Dysmorphol. 1998. PMID: 9571286
Dysplastic cortical hyperostosis (Kozlowski-Tsuruta syndrome): report of a second case.
Suri M, Garrett C, Winter RM, Hall CM, Griffiths M. Suri M, et al. Clin Dysmorphol. 2002 Oct;11(4):267-70. doi: 10.1097/00019605-200210000-00007. Clin Dysmorphol. 2002. PMID: 12401992
The KBG syndrome.
Smithson SF, Thompson EM, McKinnon AG, Smith IS, Winter RM. Smithson SF, et al. Clin Dysmorphol. 2000 Apr;9(2):87-91. doi: 10.1097/00019605-200009020-00002. Clin Dysmorphol. 2000. PMID: 10826617 Review.
Radial aplasia, poikiloderma and auto-immune enterocolitis--new syndrome or severe form of Rothmund-Thomson syndrome?
Hilhorst-Hofstee Y, Shah N, Atherton D, Harper JI, Milla P, Winter RM. Hilhorst-Hofstee Y, et al. Clin Dysmorphol. 2000 Apr;9(2):79-85. doi: 10.1097/00019605-200009020-00001. Clin Dysmorphol. 2000. PMID: 10826616
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