文章名稱引用次數

• Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children5
• Expansion of phenotype of DDX3X syndrome: six new cases5
• Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature4
• Cantu syndrome, the changing phenotype: a report of the two oldest Dutch patients3
• Novel mutation in MASP1 gene in a new family with 3MC syndrome3
• A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literature3
• SIX2 gene haploinsufficiency leads to a recognizable phenotype with ptosis, frontonasal dysplasia, and conductive hearing loss3
• A novel homozygous variant in CANT1 in a patient with Kim-type Desbuquois dysplasia2
• Phenotypic delineation of a 12q21 deletion syndrome2
• A MECOM variant in an African American child with radioulnar synostosis and thrombocytopenia2