Disease: Juvenile macular degeneration and hypotrichosis
- A case of hypotrichosis with juvenile macular dystrophy
- A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy
- A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy
- A novel splice-acceptor site mutation in CDH3 gene in a consanguineous family exhibiting hypotrichosis with juvenile macular dystrophy
- Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy
- Clinical, genetic, and electron microscopy of hair findings in a patient with CDH3 -related hypotrichosis with juvenile macular dystrophy
- Congenital dystrophy of the pigment layer of the posterior pole with congenital total hypotrichosis (author's transl)
- Correlating Adaptive Optics Images to Clinical Findings in Juvenile Macular Dystrophy with Hypotrichosis in Siblings with Homozygous CDH3 Pathogenic Variation
- Do you know this syndrome?
- Hereditary hypotrichosis (Marie-Unna type) and juvenile macular degeneration (Stargardt's maculopathy)
- Histopathology of hypotrichosis with juvenile macular dystrophy
- Homozygous deletion in CDH3 and hypotrichosis with juvenile macular dystrophy
- Hypotrichosis and juvenile macular dystrophy caused by CDH3 mutation: A candidate disease for retinal gene therapy
- Hypotrichosis with cone-rod dystrophy in a patient with cadherin 3 (CDH3) mutation
- Hypotrichosis with Juvenile Macular Dystrophy
- Hypotrichosis with juvenile macular dystrophy
- Hypotrichosis with Juvenile Macular Dystrophy in a Patient with Cadherin 3 (CDH3) Mutation
- Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin
- Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
- Hypotrichosis with juvenile macular dystrophy: clinical and electrophysiological assessment of visual function
- Hypotrichosis with juvenile macular dystrophy: Combination of whole-genome sequencing and genome-wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole-exome sequencing-A lesson from next-generation sequencing
- Hypotrichosis with juvenile macular dystrophy: Portuguese case
- Molecular basis of hypotrichosis with juvenile macular dystrophy in two siblings
- Multimodal Imaging in Hypotrichosis with Juvenile Macular Degeneration
- Multimodal imaging of Hypotrichosis with juvenile macular dystrophy: a case report
- New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
- Novel CDH3 mutations in hypotrichosis with juvenile macular dystrophy
- Novel CDH3 variants in Brazilian families with hypotrichosis and juvenile macular dystrophy revealed by exome sequencing
- Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy
- Novel homozygous sequence variants in the CDH3 gene encoding P-cadherin underlying hypotrichosis with juvenile macular dystrophy in consanguineous families
- P-cadherin regulates human hair growth and cycling via canonical Wnt signaling and transforming growth factor-β2
- Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophy
- Phenotypic observations in "hypotrichosis with juvenile macular dystrophy" (recessive CDH3 mutations)
- Retinal cadherins and the retinal cadherinopathies: Current concepts and future directions
- Splice site mutations in the P-cadherin gene underlie hypotrichosis with juvenile macular dystrophy
- The first Japanese family of CDH3-related hypotrichosis with juvenile macular dystrophy
- The first reported case of <em>CDH3</em>-related hypotrichosis with juvenile macular dystrophy from Jordan: a case report
- Unusual association of juvenile macular dystrophy with congenital hypotrichosis: occurrence in two siblings suggesting autosomal recessive inheritance