Preferred Label : johanson blizzard syndrome;

MeSH note : mutation in UBR1;

MeSH synonym : nasal alar hypoplasia, hypothyroidism, pancreatic achylia, congenital deafness; ectodermal Dysplasia-Exocrine pancreatic insufficiency; Malabsorption-Ectodermal Dysplasia-Nasal alar hypoplasia; Johanson-Blizzard syndrome; nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness;

Détails


Consulter ci-dessous une sélection des principales ressources :

Vous pouvez consulter :


http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=2315
2014
true
France
French
hypothyroidism
deafness
rare diseases
johanson blizzard syndrome
ectodermal dysplasia
pancreatic diseases
nose
scientific and technical information

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27/07/2025


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