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Schneckenbecken dysplasia

Also Known As:

Chondrodysplasia, lethal neonatal, with snail-like pelvis

Networked: 2 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Osteochondrodysplasias: 592
      - Schneckenbecken dysplasia: 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Osteochondrodysplasias: 592
    - Schneckenbecken dysplasia: 2

Experts

1.	De Domenico, Elena: 1 article (12/2015)
2.	Gilchrist, Michael J: 1 article (12/2015)
3.	Gomes-Faria, Rosa: 1 article (12/2015)
4.	Grant, Ian M: 1 article (12/2015)
5.	Owens, Nick D L: 1 article (12/2015)
6.	Cohn, Daniel H: 1 article (10/2015)
7.	Krakow, Deborah: 1 article (10/2015)
8.	Lachman, Ralph S: 1 article (10/2015)
9.	Lee, Hane: 1 article (10/2015)
10.	Nevarez, Lisette: 1 article (10/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Schneckenbecken dysplasia:

1.	Proteins (Proteins, Gene)FDA Link 12/15/2015 - "Mutations in the human ortholog of the most animally enriched novel gene, Slc35d1, are causative for Schneckenbecken dysplasia, and we show that a similar phenotype is produced by depletion of the orthologous protein in Xenopus embryos."
2.	PolyphosphatesIBA 10/01/2015 - "A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1)."
3.	Phosphoric Monoester Hydrolases (Phosphatases)IBA 10/01/2015 - "A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1)."
4.	Inositol (Myoinositol)IBA 10/01/2015 - "A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1)."