A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX.

Ansari, Morad

A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX. [electronic resource] - European journal of medical genetics Oct 2014 - 587-95 p. digital

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

1878-0849

10.1016/j.ejmg.2014.08.007 doi


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