Antley Bixler Syndrome

Common Name(s)

Antley Bixler Syndrome

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Antley Bixler Syndrome" for support, advocacy or research.

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

 

 

General Support Organizations

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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 "Antley Bixler Syndrome" returned 15 free, full-text research articles on human participants. First 3 results:

Instability of the Human Cytochrome P450 Reductase A287P Variant Is the Major Contributor to Its Antley-Bixler Syndrome-like Phenotype.
 

Author(s): Karen M McCammon, Satya P Panda, Chuanwu Xia, Jung-Ja P Kim, Daniela Moutinho, Michel Kranendonk, Richard J Auchus, Eileen M Lafer, Debashis Ghosh, Pavel Martasek, Rekha Kar, Bettie Sue Masters, Linda J Roman

Journal: J. Biol. Chem.. 2016 09;291(39):20487-502.

 

Human NADPH-cytochrome P450 oxidoreductase (POR) gene mutations are associated with severe skeletal deformities and disordered steroidogenesis. The human POR mutation A287P presents with disordered sexual development and skeletal malformations. Difficult recombinant expression and ...

Last Updated: 31 Dec 1969

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Prenatal Diagnosis of Antley-Bixler Syndrome and POR Deficiency.
 

Author(s): Elena Oldani, Catherine Garel, Martine Bucourt, Lionel Carbillon

Journal:

 

Prenatal diagnosis of severe bone diseases is challenging and requires complete and precise analysis of fetal anomalies to guide genetic investigation and parental counselling.

Last Updated: 31 Dec 1969

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Antley-Bixler syndrome: surgical management of ambiguous genitalia - a case report.
 

Author(s): E S Boia, M C Popoiu, M Puiu, C M Stanciulescu, V L David

Journal: Med Princ Pract. 2014 ;23(4):384-6.

 

To report a case of type 2 Antley-Bixler syndrome (ABS).

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Antley Bixler Syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

The Antley-Bixler syndrome: two new cases.
 

Author(s): H S Hosalkar, H S Shah, P S Gujar, B A Shaw

Journal: J Postgrad Med. ;47(4):252-5.

 

The Antley-Bixler syndrome is a rare multiple congenital anomaly with a high mortality rate. The characteristic manifestations include craniosynostosis, radiohumeral synostosis, midface hypoplasia, joint contractures and arachnodactyly. We report two new cases of this syndrome and ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.