Hunter and fragile-X syndromes in a family with Xq27.3-q28 deletion that involves FMR1 and IDS genes by Aguilera-Albesa, S, Mosquera-Gorostidi, A, Naberan-Mardaras, I, Gorria-Redondo, N, Urriza-Ripa, I, Yoldi-Petri, M.E, Ramos-Arroyo, M.A, Coll, M.J, Aznal, E, Sanchez-Valverde, F

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Self-healing Collodion Baby: A New Mutation in the ALOX12B Gene by Santesteban Muruzábal, R, Larumbe Irurzun, A, Yanguas Bayona, I, Ramos Arroyo, M.A

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Repeat instability in the 27-39 CAG range of the HD gene in the Venezuelan kindreds: Counseling implications by Brocklebank, D., Gayán, J., Andresen, J.M., Roberts, S.A., Young, A.B., Snodgrass, S.R., Penney, J.B., Ramos-Arroyo, M.A., Cha, J.J., Rosas, H.D., Hersch, S.M., Feigin, A., Cherny, S.S., Wexler, N.S., Housman, D.E., Cardon, L.R.

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Bebé colodión autorresolutivo: nueva mutación en el gen ALOX12B by Santesteban Muruzábal, R, Larumbe Irurzun, A, Yanguas Bayona, I, Ramos Arroyo, M.A

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A new splicing variant of the CYP21A2 gene identified in 2 patients with non-classical form of 21-hydroxilase deficiency by Solaesa, V. Garcia, Rojas, M.T. Lizarraga, Alonso, A. Bengoa, Otsoa, E. Andueza, Garofalo, L. Morales, Sadaba, L. Echeverria, Harou, A., Munarriz, M. Aristu, Zapata, M.I. Janices, Arroyo, M.A. Ramos

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SCA23: From likely pathogenic to rare polymorphism by Solaesa, V. García, Alonso, A. Bengoa, Rojas, M.T. Lizarraga, Sadaba, L. Echeverria, López, M. Artigas, Otsoa, E. Andueza, Harou, A., Iriarte, Y. Alvarez, Rey, M.M. Martinez, Arroyo, M.A. Ramos

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P146 – 2496: Clinical and genetic profile of two families with paroxysmal dyskinesia by Gorostidi, A. Mosquera, Esarte, E. Gembero, Arroyo, M.A. Ramos, Albesa, S. Aguilera, Petri, M.E. Yoldi

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PP05.12 – 2659: Congenital cataract with facial dysmorphism and neuropathy (CCFDN): Clinical presentation and genetic correlation by Gorostidi, A. Mosquera, Denis, S.E. Zarikian, Arroyo, E. Gembero, Arroyo, M.A. Ramos, Petri, M.E. Yoldi, Albesa, S. Aguilera

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25 Tubulopatía proximal compleja de origen metabólico: tres etiologías, tres evoluciones by Hualde Olascoaga, J., Molins Castiella, T., Rupérez García, E., Ayenchu Díaz, A., Nadal Lizabe, I., Ramos-Arroyo, M.A.

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Anticuerpo antitransglutaminasa: utilidad en el diagnóstico de la enfermedad celíaca by Palacios Sarrasqueta, M., Rivero Marcotegui, A., Sánchez-Valverde Visus, F., Feijoo Blanco, E., Ramos Arroyo, M.A., Olivera Olmedo, J.E., García Merlo, S.

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Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia by Goos, Jacqueline A C, Swagemakers, Sigrid M A, Twigg, Stephen R F, van Dooren, Marieke F, Hoogeboom, A Jeannette M, Beetz, Christian, Günther, Sven, Magielsen, Frank J, Ockeloen, Charlotte W, A Ramos-Arroyo, Maria, Pfundt, Rolph, Yntema, Helger G, van der Spek, Peter J, Stanier, Philip, Wieczorek, Dagmar, Wilkie, Andrew O M, van den Ouweland, Ans M W, Mathijssen, Irene M J, Hurst, Jane A

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Gametic but not somatic instability of CAG repeat length in Huntington's disease by MacDonald, M E, Barnes, G, Srinidhi, J, Duyao, M P, Ambrose, C M, Myers, R H, Gray, J, Conneally, P M, Young, A, Penney, J

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