Blanco-Kelly, Fiona

New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report. [electronic resource] - BMC medical genetics Jan 2017 - 1 p. digital

Publication Type: Case Reports; Journal Article

1471-2350

10.1186/s12881-016-0364-5 doi


ATP-Binding Cassette Transporters--genetics
Cadherins--genetics
Humans
Hypotrichosis--congenital
Macular Degeneration--genetics
Male
Mutation
Pedigree
Young Adult