Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia.

Vasudevan, Pradeep C

Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia. [electronic resource] - European journal of human genetics : EJHG Jul 2006 - 884-7 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1018-4813

10.1038/sj.ejhg.5201633 doi


Abnormalities, Multiple--genetics
Child, Preschool
Craniofacial Abnormalities--genetics
Ephrin-B1--genetics
Female
Genetic Diseases, X-Linked--genetics
Hernia, Diaphragmatic--genetics
Hernias, Diaphragmatic, Congenital
Humans
Infant, Newborn
Male
Phenotype
Syndrome