TY  - GEN
AU  - Blanco-Kelly,Fiona
AU  - Rodrigues-Jacy da Silva,Luciana
AU  - Sanchez-Navarro,Iker
AU  - Riveiro-Alvarez,Rosa
AU  - Lopez-Martinez,Miguel Angel
AU  - Corton,Marta
AU  - Ayuso,Carmen
TI  - New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
SN  - 1471-2350
PY  - 2017///0518
KW  - ATP-Binding Cassette Transporters
KW  - genetics
KW  - Cadherins
KW  - Humans
KW  - Hypotrichosis
KW  - congenital
KW  - Macular Degeneration
KW  - Male
KW  - Mutation
KW  - Pedigree
KW  - Young Adult
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1186/s12881-016-0364-5
ER  -