OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment.
Clin Genet
; 84(1): 86-90, 2013 Jul.
Article
in En
| MEDLINE
| ID: mdl-23036093
Full text:
1
Database:
MEDLINE
Main subject:
Orofaciodigital Syndromes
/
Retina
/
Abnormalities, Multiple
/
Proteins
/
Cerebellar Diseases
/
Eye Abnormalities
/
Cilia
/
Genetic Diseases, X-Linked
/
Kidney Diseases, Cystic
/
Basal Bodies
Limits:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Humans
/
Male
/
Newborn
Language:
En
Year:
2013
Type:
Article