![]() White SM, Ades LC, Amor D, Liebelt J, Bankier A, Baker E, Wilson M,.Syndromes, one X-linked and one autosomal recessive. R, Gillerot Y, Heron D, Heron B, Benzacken B, Lacombe D, Brunner H, Bitoun P.īlepharophimosis-mental retardation (BMR) syndromes: A proposed clinicalĬlassification of the so-called Ohdo syndrome, and delineation of two new BMR Verloes A, Bremond-Gignac D, Isidor B, David A, Baumann C, Leroy MA, Stevens.Young-Simpson syndrome: further delineation of a distinct syndrome withĬongenital hypothyroidism, congenital heart defects, facial dysmorphism, and Masuno M, Imaizumi K, Okada T, Adachi M, Nishimura G, Ishii T, Tachibana K,. ![]() In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW,Īmemiya A, editors. Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome. S, Maye U, McKee S, Mohammed S, Sweeney E, Tassabehji M, de Vries BB,Ĭlayton-Smith J. Day R, Beckett B, Donnai D, Fryer A, Heidenblad M, Howard P, Kerr B, Mansour.Citation on PubMed or Free article on PubMed Central Whole-exome-sequencing identifies mutations in histoneĪcetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant Lynch SA, Krajewska-Walasek M, McKee S, Smith J, Sweeney E, Mansour S, Mohammed Thomas T, Biesecker LG, Smith P, Fryer A, Chandler KE, Kerr B, Tassabehji M, Clayton-Smith J, O'Sullivan J, Daly S, Bhaskar S, Day R, Anderson B, Voss AK,. ![]() KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome haveĭistinct clinical features reflecting distinct molecular mechanisms.
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