Novel FAM20A mutations in hypoplastic amelogenesis imperfecta (Q24293129)

GOA release 2020-03-11

enamel mineralization

1 reference

GOA release 2020-03-11

amelogenesis imperfecta

1 reference

Sang Hyun Cho

1

0 references

Figen Seymen

2

0 references

Kyung-Eun Lee

3

0 references

Sook-Kyung Lee

4

0 references

Young-Sun Kweon

5

0 references

Kyung Jin Kim

6

0 references

Seung-Eun Jung

7

0 references

Su Jeong Song

8

0 references

Mine Yildirim

9

0 references

Merve Bayram

10

0 references

Elif Bahar Tuna

11

0 references

Koray Gencay

12

0 references

Jung-Wook Kim

Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta

13

0 references

language of work or name

English

0 references

publication date

January 2012

0 references

published in

Human Mutation

0 references

volume

33

0 references

issue

1

0 references

page(s)

91-4

0 references

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21621

Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21621

Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21621

FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21621

MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21621

A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21621

Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21621

Mutational spectrum of FAM83H: the C-terminal portion is required for tooth enamel calcification

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21621

FAM83H mutations cause ADHCAI and alter intracellular protein localization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21621

Novel WDR72 Mutation and Cytoplasmic Localization

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21621

Case reports of a new syndrome associating gingival fibromatosis and dental abnormalities in a consanguineous family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21621

FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21621

Exome sequencing identifies the cause of a mendelian disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21621

Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21621

Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21621

Epithelial-mesenchymal signalling regulating tooth morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21621

Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21621

Organic Matrix of Tooth Enamel

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21621

Mutational analysis of candidate genes in 24 amelogenesis imperfecta families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21621

inferred from DOI database lookup

7 January 2021

based on heuristic

Autosomal recessive rough hypoplastic amelogenesis imperfecta. A case report with clinical, light microscopic, radiographic, and electron microscopic observations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21621

inferred from DOI database lookup

7 January 2021

based on heuristic

Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21621