" /> Hypertension and brachydactyly syndrome - CISMeF





Preferred Label : Hypertension and brachydactyly syndrome;

Symbol : HTNB;

CISMeF acronym : HTNB;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Brachydactyly with hypertension; Brachydactyly, type e, with short stature and hypertension; Bilginturan syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the cGMP-inhibited phosphodiesterase-3A gene (PDE3A, 123805.0001);

Prefixed ID : #112410;

Détails


Vous pouvez consulter :


Nous contacter.
29/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.