A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX. [electronic resource]
Producer: 20150612Description: 587-95 p. digitalISSN:- 1878-0849
- Adolescent
- Child
- Chromosomes, Human, Pair 5
- Cleft Palate -- genetics
- Clubfoot -- complications
- Contracture -- congenital
- Ear, External -- abnormalities
- Female
- Fibrillin-2
- Fibrillins
- Fingers
- Gene Deletion
- Haploinsufficiency -- genetics
- Humans
- Male
- Microfilament Proteins -- genetics
- Mutation, Missense
- Nucleocytoplasmic Transport Proteins -- genetics
- Phenotype
- Phosphoproteins -- genetics
- Pierre Robin Syndrome -- genetics
- Sequence Deletion -- genetics
- Syndrome
- Young Adult
No physical items for this record
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
There are no comments on this title.
Log in to your account to post a comment.