Detalhe da pesquisa
1.
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.
Hum Mol Genet
; 24(11): 3038-49, 2015 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25669657
2.
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.
Nephron Physiol
; 122(1-2): 1-6, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23434854
3.
A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta.
Front Genet
; 10: 504, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31191616
4.
Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previously-Identified MMP20 Mutations Causing Amelogenesis Imperfecta.
Front Physiol
; 8: 398, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28659819
5.
Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar.
Front Physiol
; 7: 70, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26973538
6.
Corrigendum: Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar.
Front Physiol
; 7: 304, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27471476
7.
Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations.
Orphanet J Rare Dis
; 9: 84, 2014 Jun 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-24927635
8.
A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome.
Mol Syndromol
; 5(6): 293-8, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25565929