Characterization of CDH3-related congenital hypotrichosis with juvenile macular dystrophy
Congenital hypotrichosis with juvenile macular dystrophy (HJMD) is a rare disorder presenting in childhood and adolescence with central visual disturbance and sparse scalp hair. Reported retinal imaging is lacking, and whether the condition is progressive remains unclear.To investigate a series of p...
Prif Awduron: | Hull, S, Arno, G, Robson, A, Broadgate, S, Plagnol, V, McKibbin, M, Halford, S, Michaelides, M, Holder, G, Moore, A, Khan, K, Webster, A |
---|---|
Fformat: | Journal article |
Iaith: | English |
Cyhoeddwyd: |
American Medical Association
2016
|
Eitemau Tebyg
-
Homozygous deletion in CDH3 and hypotrichosis with juvenile macular dystrophy.
gan: Halford, S, et al.
Cyhoeddwyd: (2012) -
Hypotrichosis and juvenile macular dystrophy caused by CDH3 mutation: A candidate disease for retinal gene therapy
gan: Singh, M, et al.
Cyhoeddwyd: (2016) -
CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
gan: Omer Karti, et al.
Cyhoeddwyd: (2017-09-01) -
Multimodal imaging of Hypotrichosis with juvenile macular dystrophy: a case report
gan: Giovanna Carnovale-Scalzo, et al.
Cyhoeddwyd: (2021-07-01) -
Correction: Multimodal imaging of Hypotrichosis with juvenile macular dystrophy: a case report
gan: Giovanna Carnovale-Scalzo, et al.
Cyhoeddwyd: (2024-01-01)