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Hermansky-Pudlak syndrome/beta 3A adaptin mutation (Hermansky-Pudlak syndrome-2)

Pathology: - see Hermansky-Pudlak syndrome Genetics: - mutation in AP3B1 gene Clinical manifestations: - differs from the other forms of Hermansky-Pudlak syndrome a) includes immunodeficiency b) patients have an increased susceptibility to infections

Database Correlations

OMIM correlations MORBIDMAP 603401

References

  1. OMIM :accession 603401
  2. OMIM :accession 608233
  3. OMIM :accession 203300