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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3208372/
Oct 07, 2011 · Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disorder, first described in 1971 by Johanson and Blizzard. The genetic defect causing the disease was unknown until 2005, when it was shown to result from mutations of the UBR1 gene located on chromosome 15q15-21.Cited by: 12
https://rarediseases.org/rare-diseases/johanson-blizzard-syndrome/
Johanson-Blizzard syndrome (JBS) is an extremely rare genetic disorder that affects multiple organ systems of the body. Many symptoms are present at birth (congenital) or early childhood. The spectrum of potential features and physical findings associated with JBS is wide and varied and can differ dramatically from one person to another.
https://rarediseases.info.nih.gov/diseases/80/johanson-blizzard-syndrome
76 rows · Nov 30, 2015 · Johanson-Blizzard syndrome (JBS) is a very rare condition that affects …
https://www.omim.org/entry/243800
Johanson-Blizzard syndrome is an autosomal recessive disorder characterized by poor growth, mental retardation, and variable dysmorphic features, including aplasia or hypoplasia of the nasal alae, abnormal hair patterns or scalp defects, and oligodontia.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1015535/
Johanson A, Blizzard R. A syndrome of congenital aplasia of the alae nasi, deafness, hypothyroidism, dwarfism, absent permanent teeth, and malabsorption.Cited by: 70
https://www.diseaseinfosearch.org/disease/3908
Are you looking for disease information or support? Simply type in the name of a disease or condition and Disease InfoSearch will locate quality information from a database of more than 13,000 diseases and thousands of support groups and foundations. ... Johanson Blizzard syndrome. Get Update Overview. Type of Disease: Chromosomal Genetic ...
https://www.diseaseinfosearch.org/disease/3908/support
Are you looking for disease information or support? Simply type in the name of a disease or condition and Disease InfoSearch will locate quality information from a database of more than 13,000 diseases and thousands of support groups and foundations. ... Johanson Blizzard syndrome. Get Update Find Support. Support Type. Disease Support Groups ...
https://rarediseases.info.nih.gov/diseases/80/johanson-blizzard-syndrome/cases/35047
Nov 30, 2015 · The treatment of Johanson-Blizzard syndrome focuses on the specific symptoms that are present in each individual. Those with pancreatic insufficiency may require pancreatic enzyme supplements (e.g., oral pancreatin) to promote proper absorption of fats and other necessary nutrients. Vitamin supplements may also be needed to prevent or treat vitamin deficiencies that may result from ...
https://www.indianpediatrics.net/may2013/510.pdf
Johanson- Blizzard syndrome. This is a rare, autosomal recessive genetic condition with multi-system involvement and a characteristic facies. Molecular genetic testing is important to confirm the clinical diagnosis and offer prenatal diagnosis in future pregnancies. Key words: Johanson-Blizzard syndrome, India. Correspondence to: Dr K. Godbole,
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