Spondyloepimetaphyseal dysplasia X-linked

Common Name(s)

Spondyloepimetaphyseal dysplasia X-linked

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spondyloepimetaphyseal dysplasia X-linked" for support, advocacy or research.

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

 

 

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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 "Spondyloepimetaphyseal dysplasia X-linked" returned 2 free, full-text research articles on human participants. First 3 results:

BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.
 

Author(s): Sung Yoon Cho, Jun-Seok Bae, Nayoung K D Kim, Francesca Forzano, Katta Mohan Girisha, Chiara Baldo, Francesca Faravelli, Tae-Joon Cho, Dongsup Kim, Kyoung Yeul Lee, Shiro Ikegawa, Jong Sup Shim, Ah-Ra Ko, Noriko Miyake, Gen Nishimura, Andrea Superti-Furga, J├╝rgen Spranger, Ok-Hwa Kim, Woong-Yang Park, Dong-Kyu Jin

Journal: Am. J. Hum. Genet.. 2016 Jun;98(6):1243-1248.

 

Spondyloepimetaphyseal dysplasias (SEMDs) comprise a heterogeneous group of autosomal-dominant and autosomal-recessive disorders. An apparent X-linked recessive (XLR) form of SEMD in a single Italian family was previously reported. We have been able to restudy this family together ...

Last Updated: 4 Jun 2016

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New X linked spondyloepimetaphyseal dysplasia: report on eight affected males in the same family.
 

Author(s): G Camera, G Stella, A Camera

Journal: J. Med. Genet.. 1994 May;31(5):371-6.

 

We report on a probably new form of spondyloepimetaphyseal dysplasia (SEMD) with an X linked inheritance pattern. Eight males were affected in the same family. We were able to examine three adult patients and we studied the skeletal radiological aspect of one of these patients at ...

Last Updated: 22 Sep 1994

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Reviews from the PubMed Database

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The terms "Spondyloepimetaphyseal dysplasia X-linked" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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