New cases from Spanish population with intragenic pathogenic variants in SETD5 gene: refining the phenotype and expanding the genotype
Por:
Soler, M, Santos-Simarro, F, Garcia-Minaur, S, Anton, A, Seidel, V, Castan, G, Pacio-Miguez, M and Palomares-Bralo, M
Publicada:
1 abr 2022
Resumen:
Filiaciones:
Soler, M:
H Clin Univ Arrixaca, Med Genet Sect, IMIB Arrixaca, El Palmar, Spain
Santos-Simarro, F:
Hosp Univ La Paz, Inst Genet Med & Mol INGEMM, IdiPaz, Madrid, Spain
Ctr Invest Biomed Red Enfermedades Raras, CIBERER, ISCIII, Madrid, Spain
Garcia-Minaur, S:
Hosp Univ La Paz, Inst Genet Med & Mol INGEMM, IdiPaz, Madrid, Spain
Ctr Invest Biomed Red Enfermedades Raras, CIBERER, ISCIII, Madrid, Spain
Anton, A:
H Clin Univ Arrixaca, Med Genet Sect, IMIB Arrixaca, El Palmar, Spain
Seidel, V:
Gregorio Maranon Hosp, Med Genet Sect, Madrid, Spain
:
Hosp Univ Ribera, Consulta Dismorfol, Valencia, Spain
Pacio-Miguez, M:
Hosp Univ La Paz, Inst Genet Med & Mol INGEMM, IdiPaz, Madrid, Spain
Palomares-Bralo, M:
Hosp Univ La Paz, Inst Genet Med & Mol INGEMM, IdiPaz, Madrid, Spain
Ctr Invest Biomed Red Enfermedades Raras, CIBERER, ISCIII, Madrid, Spain
European Reference Network Congenital Malformat &, Madrid, Spain
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