Complex morphological and molecular genetic examination of amelogenesis imperfecta: A case presentation of two Czech siblings with a non-syndrome form of the disease

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F14%3A10293169" target="_blank" >RIV/00064203:_____/14:10293169 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11130/14:10293169

Result on the web

<a href="http://www.ncbi.nlm.nih.gov/pubmed/25275257" target="_blank" >http://www.ncbi.nlm.nih.gov/pubmed/25275257</a>

DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Complex morphological and molecular genetic examination of amelogenesis imperfecta: A case presentation of two Czech siblings with a non-syndrome form of the disease

Original language description

Amelogenesis imperfecta (AI) is an overarching term for a group of rare inherited disorders of hard tooth tissues. It is characterized by various defects in proper enamel formation. AI is a severe disorder that affects both the aesthetics and function ofthe dentition, with affected teeth increasingly suffering from dental caries. Therefore, early diagnosis and lifelong stomatological interventions are important. Due to the complex nature of AI family history, stomatological, radiographic, and moleculargenetic examinations should be part of the diagnostic portfolio. Additionally, we utilized new visualization methods for the assessment of teeth demineralization. We present a case report of two affected Czech sisters (6 and 8 years old) with clinicallydefined AI. These are the first Czech cases in which comprehensive clinical and genetic analysis had been carried out and reflect the complex clinical nature, positive treatment options, and limitations of candidate-gene molecular geneti

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

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Project

<a href="/en/project/NT13351" target="_blank" >NT13351: 3-D reconstruction of hard and soft tissues in handicapped patients - stability of therapy.</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2014

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Neuroendocrinology Letters

ISSN

0172-780X

e-ISSN

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Volume of the periodical

35

Issue of the periodical within the volume

5

Country of publishing house

SE - SWEDEN

Number of pages

5

Pages from-to

347-351

UT code for WoS article

000349383900003

EID of the result in the Scopus database

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