Johanson-Blizzard syndrome: hepatic and hematological features with novel genotype.
Johanson-Blizzard syndrome (JBS); (OMIM: 243800) presents with features of malabsorption and dysmorphic features with onset of symptoms in infantile age group. The disorder was first described in the year 1971 with report of the first Indian case in 2004. We discuss two rare phenotypes (hepatitis and anemia) in a molecularly confirmed case of JBS.
Division of Genetics, Department of Pediatrics, Maulana Azad Medical College, New Delhi, 110 002, India.
Ankur
A
Singh
Neha
N
Chaudhary
Dhulika
D
Dhingra
Maja
M
Sukalo
Martin
M
Zenker
Seema
S
Kapoor
D000740:Anemia; D001006:Anus, Imperforate / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D004476:Ectodermal Dysplasia / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics; D005820:Genetic Testing; D005838:Genotype; D006130:Growth Disorders / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*; D006403:Hematologic Tests; D006505:Hepatitis; D006801:Humans; D007037:Hypothyroidism / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*; D007223:Infant; D008607:Intellectual Disability / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D009154:Mutation; D009666:Nose / Q000002:abnormalities*; D010182:Pancreatic Diseases / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*; D010641:Phenotype; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
C113474:UBR1 protein, human; D044767:Ubiquitin-Protein Ligases