TY  - GEN
AU  - Martínez-Frías, María Luisa
AU  - Arteaga, RM
AU  - Martinez-Fernandez, Maria Luisa
AU  - Bermejo-Sanchez, Eva
PY  - 2012
SN  - 0210–3893
UR  - http://hdl.handle.net/20.500.12105/14099
AB  - 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 additional features have been...
LA  - spa
PB  - Instituto de Salud Carlos III (ISCIII). Instituto de Investigación de Enfermedades Raras (IIER)
KW  - Johnson-McMillin
KW  - Síndrome
KW  - Syndrome
TI  - Síndrome de Johnson-McMillin: Descripción del primer paciente de España
T2  - Johnson-McMillin syndrome (JMS): description of the first patient in Spain
TY  - research article
ER  -