Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Maria Luisa Lorente Jareño"'
Autor:
María Luisa Martínez-Frías, Maria Luisa Lorente Jareño, Irene Cuadrado Pérez, Juana Herrera Montes, Fermina López Grondona, Laura Canabal Rodríguez
Publikováno v:
American Journal of Medical Genetics. 110:73-77
We report on a new patient with a 7q terminal deletion. The 18-month-old boy had metal retardation, microcephaly, a distinctive face, bilateral coloboma, cafe-au-lait spot on the abdomen, and sacral agenesis. The high resolution GTG bands (550-850 ba
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ae684a85d8505a992a0c636a660aae0e
https://doi.org/10.1002/ajmg.10365
https://doi.org/10.1002/ajmg.10365
Autor:
Laura, Rodríguez, Irene, Cuadrado Pérez, Juana, Herrera Montes, Maria Luisa, Lorente Jareño, Fermina, López Grondona, Maria Luisa, Martínez-Frías
Publikováno v:
American journal of medical genetics. 110(1)
We report on a new patient with a 7q terminal deletion. The 18-month-old boy had metal retardation, microcephaly, a distinctive face, bilateral coloboma, café-au-lait spot on the abdomen, and sacral agenesis. The high resolution GTG bands (550-850 b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d88c7be3c82c2c2b7353cff3c5f3fc0d
https://pubmed.ncbi.nlm.nih.gov/12116275
https://pubmed.ncbi.nlm.nih.gov/12116275
Autor:
Miguel Ángel Molina Gutiérrez, Belén Sagastizabal Cardelus, María Luisa Lorente Jareño, María del Pilar Gutiérrez Díez
Publikováno v:
Anales de Pediatría, Vol 91, Iss 3, Pp 209-211 (2019)
Externí odkaz:
https://doaj.org/article/da776604314b46b7a22463feead67506