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Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.
Verloes A, Bremond-Gignac D, Isidor B, David A, Baumann C, Leroy MA, Stevens R, Gillerot Y, Héron D, Héron B, Benzacken B, Lacombe D, Brunner H, Bitoun P. Verloes A, et al. Am J Med Genet A. 2006 Jun 15;140(12):1285-96. doi: 10.1002/ajmg.a.31270. Am J Med Genet A. 2006. PMID: 16700052
We report on 11 patients from 8 families with a blepharophimosis and mental retardation syndrome (BMRS) phenotype. Using current nosology, five sporadic patients have Ohdo syndrome, associated with congenital hypothyroidism in two of them (thus also compatible with a …
We report on 11 patients from 8 families with a blepharophimosis and mental retardation syndrome (BMRS) phenotype. Using current noso …
The orocraniodigital syndrome of Juberg and Hayward.
Verloes A, Le Merrer M, Davin JC, Wittamer P, Abrassart C, Bricteux G, Briard ML. Verloes A, et al. J Med Genet. 1992 Apr;29(4):262-5. doi: 10.1136/jmg.29.4.262. J Med Genet. 1992. PMID: 1583649 Free PMC article. Review.
The Baller-Gerold syndrome.
Van Maldergem L, Verloes A, Lejeune L, Gillerot Y. Van Maldergem L, et al. Among authors: verloes a. J Med Genet. 1992 Apr;29(4):266-8. doi: 10.1136/jmg.29.4.266. J Med Genet. 1992. PMID: 1583650 Free PMC article.
512 results