mutational$51062$ - traduzione in olandese
Diclib.com
Dizionario ChatGPT
Inserisci una parola o una frase in qualsiasi lingua 👆
Lingua:

Traduzione e analisi delle parole tramite l'intelligenza artificiale ChatGPT

In questa pagina puoi ottenere un'analisi dettagliata di una parola o frase, prodotta utilizzando la migliore tecnologia di intelligenza artificiale fino ad oggi:

  • come viene usata la parola
  • frequenza di utilizzo
  • è usato più spesso nel discorso orale o scritto
  • opzioni di traduzione delle parole
  • esempi di utilizzo (varie frasi con traduzione)
  • etimologia

mutational$51062$ - traduzione in olandese

OSTEOCHONDRODYSPLASIA THAT HAS MATERIAL BASIS IN MUTATIONS IN THE RUNX2 GENE WHICH RESULTS IN UNDEVELOPED OR ABSENT LOCATED IN CLAVICLE ALONG WITH DELAYED CLOSING OF FONTANELS IN THE LOCATED IN SKULL
Cleidocranial dysplasia; Cleidocranial; Cleidocranial Dysostosis; Craniocleidodysostosis; Mutational dysostosis

mutational      
adj. van een verandering, betreffende een verandering

Definizione

mutation
n.
1) to induce a mutation
2) a gene mutation

Wikipedia

Cleidocranial dysostosis

Cleidocranial dysostosis (CCD), also called cleidocranial dysplasia, is a birth defect that mostly affects the bones and teeth. The collarbones are typically either poorly developed or absent, which allows the shoulders to be brought close together. The front of the skull often does not close until later, and those affected are often shorter than average. Other symptoms may include a prominent forehead, wide set eyes, abnormal teeth, and a flat nose. Symptoms vary among people; however, intelligence is typically unaffected.

The condition is either inherited or occurs as a new mutation. It is inherited in an autosomal dominant manner. It is due to a defect in the RUNX2 gene which is involved in bone formation. Diagnosis is suspected based on symptoms and X-rays with confirmation by genetic testing. Other conditions that can produce similar symptoms include mandibuloacral dysplasia, pyknodysostosis, osteogenesis imperfecta, and Hajdu-Cheney syndrome.

Treatment includes supportive measures such as a device to protect the skull and dental care. Surgery may be performed to fix certain bone abnormalities. Life expectancy is generally normal.

It affects about one per million people. Males and females are equally commonly affected. Modern descriptions of the condition date to at least 1896. The term is from cleido meaning collarbone, cranial from the Greek κρανιὀς meaning skull, and dysostosis meaning formation of abnormal bone.