Zobrazeno 1 - 3
of 3
pro vyhledávání: '"J G Barbosa Neto"'
Autor:
Reis Df, S Middleton, J G Barbosa Neto, L F Telles, J C Llerena Júnior, Ramos Pontes, J C de Almeida
Publikováno v:
Journal of Medical Genetics. 28:277-279
Two sibs with a phenotype characterised by short stature, brachydactyly, and ocular anomalies (Peters' anomaly) are reported (Peters'-plus syndrome). The consanguinity is in agreement with the proposed autosomal recessive inheritance.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c8ee2d1ee3a8889d81c07a2656db1eb
https://doi.org/10.1136/jmg.28.4.277
https://doi.org/10.1136/jmg.28.4.277
Autor:
J G Barbosa Neto, Fernando Regla Vargas, Raquel Boy, J C Llerena Júnior, Dafne Dain Gandelman Horovitz, José Carlos Cabral de Almeida
Publikováno v:
Journal of Medical Genetics. 32:78-79
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::429d82712c6f5633e79e6dce702182bb
https://doi.org/10.1136/jmg.32.1.78-a
https://doi.org/10.1136/jmg.32.1.78-a
Publikováno v:
Journal of Medical Genetics. 23:328-332
This study was undertaken to establish the prevalence rates at birth of the skeletal dysplasias that can be recognised in the perinatal period. Using the data base of the Latin-American Collaborative Study of Congenital Malformations (ECLAMC), for th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ae8a265d08d4510537e87ae80ed0010
https://doi.org/10.1136/jmg.23.4.328
https://doi.org/10.1136/jmg.23.4.328