Family case of holoprosencephaly
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F14%3A00077713" target="_blank" >RIV/00216224:14110/14:00077713 - isvavai.cz</a>
Alternative codes found
RIV/65269705:_____/14:00062425
Result on the web
—
DOI - Digital Object Identifier
—
Alternative languages
Result language
angličtina
Original language name
Family case of holoprosencephaly
Original language description
Holoprosencephaly is a heterogenous group of diseases. It is caused by full or partial lack of separatio of the embryonic prosencephalon into two different hemisfere. It may by associated with malformations in the central part of the face. It is often caused by the mothers explosure to teratogens in the first weeks of pregnancy or chromosomal abberationions. Hereditary holoprosencephalies are described as autosomal dominant diseases with varied penetration or autosomal recessive or X-linked syndromes.
Czech name
—
Czech description
—
Classification
Type
O - Miscellaneous
CEP classification
FK - Gynaecology and obstetrics
OECD FORD branch
—
Result continuities
Project
—
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2014
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů