Inserisci una parola o una frase in qualsiasi lingua 👆
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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
Cosa (chi) è Waardenburg Syndrome Type 1 - definizione
Waardenburg Syndrome Type 1
HUMAN DISEASE
Waardenburg syndrome type 1; Draft:Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 is a congenital disorder that caused by a mutation in the PAX3 gene that results in abnormal development in the neural crest during early development. Type 1 results in early graying and white forelock and a notable distance between the eyes, noted as dystopia canthorum.
Waardenburg Syndrome Type 4A
.png?width=200 "The blue irises seen in the image present a common phenotype seen by patient of Type 4A Waardenburg Syndrome. However, patients of the Shah-Waardenburg Syndrome do not display signs of dystopia canthorum as seen in other types of Waardenburg Syndromes.")
SUBTYPE OF WAARDENBURG SYNDROME TYPE 4 (WAARDENBURG-SHAH SYNDROME) CAUSED BY MUTATIONS IN EDNRB
Shah-Waardenburg syndrome; The Waardenburg Syndrome Type 4A: Shah-Waardenburg Syndrome; Waardenburg Syndrome Type 4A: Shah-Waardenburg Syndrome
Waardenburg Syndrome Type 4A is an extremely rare congenital disorder caused by a mutation in an endothelin receptor gene. It results in common Waardenburg syndrome symptoms such as abnormal hair and skin pigmentation and heterochromia, but also present with symptoms of Hirschsprung’s disease.
Waardenburg Syndrome Type 2D
![heterochromia]] as a symptom of type 2D Waardenburg syndrome. The patient also lacks the dystopia canthorum which distinguishes them from Type 1 patients.](https://commons.wikimedia.org/wiki/Special:FilePath/Heterochromia plos.png?width=200 "heterochromia]] as a symptom of type 2D Waardenburg syndrome. The patient also lacks the dystopia canthorum which distinguishes them from Type 1 patients.")
HUMAN DISEASE
Waardenburg syndrome type 2D; Draft:The Waardenburg Syndrome Type 2D; The Waardenburg Syndrome Type 2D
Waardenburg Syndrome Type 2D, a subtype of the Waardenburg syndrome, is a rare congenital disorder caused by a mutation in the SLUG (SNAI2) gene. It is characterized by the lack of pigmentation in the skin, hair, and eyes as well as the abnormalities in the outer wall of the cochlea.
