Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual
同一人患有伴有NIPBL基因突变的科内莉亚·德·兰格综合征和嵌合型特纳综合征
期刊:BMC Medical Genetics
影响因子:
doi:10.1186/1471-2350-13-43
Wierzba, Jolanta; Gil-Rodríguez, María Concepción; Polucha, Anna; Puisac, Beatriz; Arnedo, María; Teresa-Rodrigo, María Esperanza; Winnicka, Dorota; Hegardt, Fausto G; Ramos, Feliciano J; Limon, Janusz; Pié, Juan