A case report of a patient with microcephaly, facial dysmorphism, chromosomal radiosensitivity and telomere length alterations closely resembling "Nijmegen breakage syndrome" phenotype.
A case report of a patient with microcephaly, facial dysmorphism, chromosomal radiosensitivity and telomere length alterations closely resembling "Nijmegen breakage syndrome" phenotype.
复制标题
一名患有小头畸形、面部畸形、染色体放射敏感性和端粒长度改变的患者的病例报告，与“奈梅亨断裂综合征”表型非常相似。
DOI：
10.1016/j.ejmg.2007.01.006
复制
发表时间：
2007
影响因子：
1.9
通讯作者：
Antoccia,A
中科院分区：
文献类型：
--
作者：
Berardinelli,F;diMasi,A;Salvatore,M;Banerjee,S;Myung,K;DeVillartay,JP;Revy,P;Plebani,A;Soresina,A;Taruscio,D;Tanzarella,C;Antoccia,A
