Characterization of<i>CDH3</i>-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy
July 2016
in “
JAMA Ophthalmology
”
Research cited in this study
4 / 4 resultsresearch Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy
15 citations , November 2012 in “Archives of Ophthalmology” A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
research A Novel Nonsense CDH3 Mutation in Hypotrichosis with Juvenile Macular Dystrophy
13 citations , February 2012 in “International Journal of Dermatology” A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
research Molecular Basis of Hypotrichosis with Juvenile Macular Dystrophy in Two Siblings
30 citations , August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
research Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
52 citations , November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
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6 / 6 resultsresearch Hypotrichosis With Juvenile Macular Dystrophy in Saudi Arabia: A Case Report
3 citations , December 2020 in “Skin Appendage Disorders” Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.
research CDH3 Gene Related Hypotrichosis and Juvenile Macular Dystrophy: A Case with a Novel Mutation
9 citations , June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
23 citations , January 2017 in “BMC Medical Genetics” The case report detailed the first Spanish case of Hypotrichosis with Juvenile Macular Dystrophy (HJMD) linked to a new mutation in the CDH3 gene. The patient, a male born in 1998, initially misdiagnosed with other conditions, was found to have a novel maternal missense mutation (p.Val205Met) and a known paternal frameshift mutation (c.830del;p.Gly277Alafs*20) in the CDH3 gene. This confirmed the HJMD diagnosis, characterized by sparse hair and retinal dystrophy. The study underscored the importance of combining clinical assessment with genetic analysis for accurate diagnosis and highlighted the role of genetic testing in managing rare genetic disorders.
research Hypotrichosis With Juvenile Macular Dystrophy: A Case Report With Molecular Study
5 citations , January 2017 in “Arquivos Brasileiros de Oftalmologia” A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
research Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy
15 citations , November 2012 in “Archives of Ophthalmology” A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
research Molecular Basis of Hypotrichosis with Juvenile Macular Dystrophy in Two Siblings
30 citations , August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.