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LAMB3

laminin subunit beta 3

HCNC Approved Symbol
LAMB3 (HGNC:6490)
Genomic Coordinates
1:209,614,870 - 209,652,425 (1q32.2)
Synonyms
nicein-125kDa, kalinin-140kDa, BM600-125kDa, LAMNB1
Disease Associations
This gene is associated with the following 3 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Amelogenesis imperfecta, type IA
104530AD
Epidermolysis bullosa, junctional 1A, intermediate
226650AR
Epidermolysis bullosa, junctional 1B, severe
226700AR

Diagnosed Cases

13Patients

In total, 13 patients were diagnosed with a variant in the LAMB3 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Skin blistering
 4 (30.8%)
Bleeding with minor or no trauma
 4 (30.8%)
Bullae of oral mucosa
 3 (23.1%)
Blistering skin
 3 (23.1%)
Peeling skin
 3 (23.1%)