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Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).

By Camacho Salas, Ana. European journal of human genetics: EJHG, 2016 . 24(9):1262-7. , Formato Vancouver: Micalizzi A, Poretti A, Romani M, Ginevrino M, Mazza T, Aiello C et al. Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome). Eur J Hum Genet. 2016 Aug;24(9):1262-7.

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Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.

By Cruz Rojo, Jaime | Sánchez del Pozo, Jaime. European journal of human genetics: EJHG, 2015 . 23(7):907-14. , Formato Vancouver: Paumard Hernández B, Berges Soria J, Barroso E, Rivera Pedroza CI, Pérez Carrizosa V, Benito Sanz S et al. Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. Eur J Hum Genet. 2015 Jul;23(7):907-14.

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Identification of a Gypsy SHOX mutation (p.A170P) in Leri-Weill dyschondrosteosis and Langer mesomelic dysplasia

By Cruz Rojo, Jaime. European Journal of Human Genetics, 2011 . 19(12):1218-1225. , Formato Vancouver: Barca Tierno V, Aza Carmona M, Barroso E, Heine Suner D, Azmanov D, Rosell J, et al. Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia. Eur J Hum Genet. 2011;19(12):1218-25.

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