Johnson-McMillin syndrome (JMS): description of the first patient in Spain

Autor: Martínez-Frías, ML, Arteaga, RM, Martínez-Fernández, Mª Luisa, Bermejo-Sanchez, Eva

Publikováno v: Repisalud
Instituto de Salud Carlos III (ISCIII)

Dismorfología y Genética Clínica The JMS (OMIM: 147770) is a rare autosomal dominant neuroectodermal disorder characterized by alopecia, ear malformations, conductive hearing loss, anosmia/hyposmia, and hypogonadotropic hypogonadism. Morover, some

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::310bfa204cf39c1e233bfacb5b2a2c4b
https://hdl.handle.net/20.500.12105/14099

Screening for subtelomeric chromosome alteration in a consecutive series of newborns with congenital defects.

Autor: Rodríguez L; Spanish Collaborative Study of Congenital Malformations (ECEMC), Research Center of Congenital Anomalies (CIAC), Carlos III Health Institute, Ministry of Health and Consumer Affairs Neurology Service, Hospital Marqués de Valdecilla, Cantabria Pediatric Service, Hospital Universitario Central de Asturias, Oviedo Neonatology Service, Hospital Severo Ochoa Pediatric Service, Hospital General del Insalud de Guadalajara, Guadalajara Pediatric Service, Hospital del Rio Hortega, Valladolid Pediatric Service, Hospital de la Plana, Vila-Real, Castellón, Spain Pharmacology Department, Medicine Faculty, Complutense University, Madrid., Martínez-Fernández ML, Mansilla E, Mendioroz J, Arteaga RM, Toral JF, Guardia NM, García A, Centeno F, Pantoja J, Jovani C, Martínez-Frías ML

Publikováno v: Clinical dysmorphology [Clin Dysmorphol] 2008 Jan; Vol. 17 (1), pp. 5-12.