Amelogenesis imperfectaGene: TMEM165
Foulquier et al (2012, PMID:22683087) report 1 patient (case 5) of an American girl with congenital disorder of glycosylation type 2k with the additional feature of amelogenesis imperfecta and skeletal abnormalities.
12 Jun 2017, 9:10 a.m.
This panel has been promoted after review by Claire Smith (Leeds) and further personal consultation with Dr Smith
TMEM165 was created by rfoulger
TMEM165 was added to Amelogenesis Imperfectapanel. Sources: Other