Schneckenbecken dysplasia

Common Name(s)

Schneckenbecken dysplasia

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Schneckenbecken dysplasia" 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 "Schneckenbecken dysplasia" returned 3 free, full-text research articles on human participants. First 3 results:

A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1).
 

Author(s): Hane Lee, Lisette Nevarez, Ralph S Lachman, William R Wilcox, Deborah Krakow, Daniel H Cohn,

Journal: Am. J. Med. Genet. A. 2015 Oct;167A(10):2470-3.

 

Last Updated: 11 Sep 2015

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Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases.
 

Author(s): T Furuichi, H Kayserili, S Hiraoka, G Nishimura, H Ohashi, Y Alanay, J C Lerena, A D Aslanger, H Koseki, D H Cohn, A Superti-Furga, S Unger, S Ikegawa

Journal: J. Med. Genet.. 2009 Aug;46(8):562-8.

 

Schneckenbecken dysplasia (SBD) is an autosomal recessive lethal skeletal dysplasia that is classified into the severe spondylodysplastic dysplasias (SSDD) group in the international nosology for skeletal dysplasias. The radiological hallmark of SBD is the snail-like configuration ...

Last Updated: 3 Aug 2009

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Perinatally lethal, short-limbed dwarfism with distinct features -- Schneckenbecken dysplasia.
 

Author(s): J J Varkey, R A K Jones

Journal: Ultrasound Obstet Gynecol. 2004 Oct;24(5):575-7.

 

The clinical, radiographical and histological features are described for a case of Schneckenbecken dysplasia, presenting antenatally with increased nuchal thickness and severe skeletal dysplasia. Intrauterine death occurred in the third trimester and the precise diagnosis was made ...

Last Updated: 7 Oct 2004

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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 "Schneckenbecken dysplasia" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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