Cone-Rod Dystrophy Amelogenesis Imperfecta

Common Name(s)

Cone-Rod Dystrophy Amelogenesis Imperfecta

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cone-Rod Dystrophy Amelogenesis Imperfecta" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Cone-Rod Dystrophy Amelogenesis Imperfecta" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Cone-Rod Dystrophy Amelogenesis Imperfecta" returned 5 free, full-text research articles on human participants. First 3 results:

Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.
 

Author(s): Bozena Polok, Pascal Escher, Aude Ambresin, Eliane Chouery, Sylvain Bolay, Isabelle Meunier, Francis Nan, Christian Hamel, Francis L Munier, Bernard Thilo, André Mégarbané, Daniel F Schorderet

Journal: Am. J. Hum. Genet.. 2009 Feb;84(2):259-65.

 

Cone-rod dystrophies are inherited dystrophies of the retina characterized by the accumulation of deposits mainly localized to the cone-rich macular region of the eye. Dystrophy can be limited to the retina or be part of a syndrome. Unlike nonsyndromic cone-rod dystrophies, syndromic ...

Last Updated: 13 Feb 2009

Go To URL
Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.
 

Author(s): David A Parry, Alan J Mighell, Walid El-Sayed, Roger C Shore, Ismail K Jalili, Hélène Dollfus, Agnes Bloch-Zupan, Roman Carlos, Ian M Carr, Louise M Downey, Katharine M Blain, David C Mansfield, Mehdi Shahrabi, Mansour Heidari, Parissa Aref, Mohsen Abbasi, Michel Michaelides, Anthony T Moore, Jennifer Kirkham, Chris F Inglehearn

Journal: Am. J. Hum. Genet.. 2009 Feb;84(2):266-73.

 

The combination of recessively inherited cone-rod dystrophy (CRD) and amelogenesis imperfecta (AI) was first reported by Jalili and Smith in 1988 in a family subsequently linked to a locus on chromosome 2q11, and it has since been reported in a second small family. We have identified ...

Last Updated: 13 Feb 2009

Go To URL
An autosomal recessive cone-rod dystrophy associated with amelogenesis imperfecta.
 

Author(s): M Michaelides, A Bloch-Zupan, G E Holder, D M Hunt, A T Moore

Journal: J. Med. Genet.. 2004 Jun;41(6):468-73.

 

Last Updated: 2 Jun 2004

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Cone-Rod Dystrophy Amelogenesis Imperfecta" returned 0 free, full-text review articles on human participants.

 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.