[NIPBL gene mutations in two children with Cornelia de Lange syndrome].

Abstract excerpt

Both children (one boy and one girl) experienced disease onset in infancy and visited the hospital due to growth retardation. They had unusual facies including thick hair, arched and confluent eyebrows, long and curly eyelashes, short nose, and micrognathia. Patient 1 had congenital heart disease (atrial septal defect and pulmonary stenosis) and special dermatoglyph (a single palmar crease). Patient 2 had cleft...

Topics

• Cell Cycle Proteins
• De Lange Syndrome
• Female
• High-Throughput Nucleotide Sequencing
• Humans
• Infant
• Male
• Mutation
• Proteins