4a-hydroxytetrahydrobiopterin dehydratase - meaning and definition. What is 4a-hydroxytetrahydrobiopterin dehydratase
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What (who) is 4a-hydroxytetrahydrobiopterin dehydratase - definition


4a-hydroxytetrahydrobiopterin dehydratase         
In enzymology, a 4a-hydroxytetrahydrobiopterin dehydratase () is an enzyme that catalyzes the chemical reaction
Waardenburg Syndrome Type 4A         
  • The mutations in the EDNRB gene results in abnormalities in the neural tube and specification of the enteric nervous system precursors that are present in the gut.
  • 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.
Ava 4A         
ENGINE FOR LIGHT AIRCRAFT
Ava 4A-00; Ava 4A-02
The Ava 4A was a low power flat-four (boxer engine) developed for very light aircraft in France in the 1930s. It was used by several prototypes and at least one production series.