No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome
无论是否伴有脉络膜视网膜病变、淋巴水肿或智力低下综合征，家族性小头畸形均无位点异质性的证据
期刊:Orphanet Journal of Rare Diseases
影响因子:3.4
doi:10.1186/s13023-015-0271-4
Matthieu J Schlögel, Antonella Mendola, Elodie Fastré, Pradeep Vasudevan, Koen Devriendt, Thomy J L de Ravel, Hilde Van Esch, Ingele Casteels, Ignacio Arroyo Carrera, Francesca Cristofoli, Karen Fieggen, Katheryn Jones, Mark Lipson, Irina Balikova, Ami Singer, Maria Soller, María Mercedes Villanueva
