Cortesi, Ambra

An additional case of cerebrofaciothoracic dysplasia associated with Chiari type I malformation. [electronic resource] - Clinical dysmorphology Jul 2013 - 115-117 p. digital

Publication Type: Case Reports; Journal Article

1473-5717

10.1097/MCD.0b013e328360c9ff doi


Abnormalities, Multiple--genetics
Adolescent
Arnold-Chiari Malformation--genetics
Facies
Female
Humans
Intellectual Disability--genetics
Karyotype
Mutation