Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings
Mariño-Enríquez A, Lapunzina P, Robertson SP, Rodríguez JI. Am J Med Genet A. 2007 May 15;143A(10):1120-5
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Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications
Torres-Juan L, Rosell J, Sánchez-de-la-Torre M, Fibla J, Heine-Suñer D.BMC Med Genet. 2007 Apr 2;8:14
Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome
Narumi Y, Aoki Y, Niihori T, Neri G, Cavé H, Verloes A, Nava C, Kavamura MI, Okamoto N, Kurosawa K, Hennekam RC, Wilson LC, Gillessen-Kaesbach G, Wieczorek D, Lapunzina P, Ohashi H, Makita Y, Kondo I, Tsuchiya S, Ito E, Sameshima K, Kato K, Kure S, Matsubara Y. Am J Med Genet A. 2007 Apr…
DetallesSmall supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosis
Villa O, Del Campo M, Salido M, Gener B, Astier L, Del Valle J, Gallastegui F, Pérez-Jurado LA, Solé F. Am J Med Genet A. 2007 May 15;143A(10):1108-13