Zobrazeno 1 - 2
of 2
pro vyhledávání: '"O. F. Chacon-Camacho"'
Autor:
R. Villafuerte-De la Cruz, O. F. Chacon-Camacho, A. C. Rodriguez-Martinez, N. Xilotl-De Jesus, R. Arce-Gonzalez, C. Rodriguez-De la Torre, J. E. Valdez-Garcia, A. Rojas-Martinez, J. C. Zenteno
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Inherited retinal diseases (IRDs) represent a spectrum of clinically and genetically heterogeneous disorders. Our study describes an IRD patient carrying ABCA4 and USH2A pathogenic biallelic mutations as a result of paternal uniparental disomy (UPD)
Externí odkaz:
https://doaj.org/article/0907b4bd13b540dfacbfde584d291a32
Autor:
M. A. Ramirez-Garcia, O. F. Chacon-Camacho, C. Leyva-Hernandez, A. Cardenas-Conejo, J. C. Zenteno
Publikováno v:
Case Reports in Genetics, Vol 2013 (2013)
Craniofrontonasal syndrome (CNFS) is an X-linked disorder caused by mutations in the EFNB1 gene in which, paradoxically, heterozygous females are more severely affected than hemizygous males. In this paper, the clinical and molecular studies of a fem
Externí odkaz:
https://doaj.org/article/d11ae94a2843476791ee20c0de042b43