Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations

Autor: Acevedo, Ana Carolina, Poulter, James A, Alves, Priscila Gomes, de Lima, Caroline Lourenço, Castro, Luiz Claudio, Yamaguti, Paulo Marcio, Paula, Lilian M, Parry, David A, Logan, Clare V, Smith, Claire E L, Johnson, Colin A, Inglehearn, Chris F, Mighell, Alan J

Publikováno v: Acevedo, A C, Poulter, J A, Alves, P G, de Lima, C L, Castro, L C, Yamaguti, P M, Paula, L M, Parry, D A, Logan, C V, Smith, C E L, Johnson, C A, Inglehearn, C F & Mighell, A J 2015, ' Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations ', BMC Medical Genetics, vol. 16, no. 1, 8 . https://doi.org/10.1186/s12881-015-0154-5
BMC Medical Genetics

Background Raine syndrome (RS) is a rare autosomal recessive bone dysplasia typified by osteosclerosis and dysmorphic facies due to FAM20C mutations. Initially reported as lethal in infancy, survival is possible into adulthood. We describe the molecu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::4f2b77e69929be172e1fc3e4895279e8

Manifestações bucais de pacientes com doenças renais hereditárias e nefrocalcinose e análise de variação de seqüência de pacientes com amelogênese imperpeita e FHHNC

Autor: Yamaguti, Paulo Marcio

Publikováno v: Repositório Institucional da UnBUniversidade de BrasíliaUNB.

Tese (doutorado)—Universidade de Brasília, Programa de Pós-Graduação em Ciências da Saúde, 2012.
Submitted by Albânia Cézar de Melo (albania@bce.unb.br) on 2012-05-09T13:47:20Z No. of bitstreams: 1 2012_PauloMarcioYamaguti.pdf: 2588662

Externí odkaz: http://repositorio.unb.br/handle/10482/10399