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Paper Details

Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family.
Am J Med Genet A
2
2022
AOH, ES, FAM134B, HSAN2B, Hereditary sensory and autonomic neuropathy type 2B, LPIN2, Majeed syndrome, RETREG1, RETREG1 (FAM134B) founder allele, RETREG1 variant, RETREG1-, RETREG1-disease, amputation of hands and feet, amputations, autonomic dysfunction, autosomal recessive peripheral neuropathy, axonal sensorimotor neuropathy, chronic recurrent multifocal osteomyelitis, founder allele, hyperhidrosis, microcytic anemia, osteomyelitis, renal, renal disease, renal failure, sensory impairment, sensory neuropathy, skin ulcerations, spasticity, ulceration, urinary incontinence, weakness
Author NameAffiliation
Zeynep Coban AkdemirBaylor College of Medicine
Zeynep Coban AkdemirSchool of Public Health, The University of Texas Health Science Center at Houston
Shalini N JhangianiBaylor College of Medicine
Jennifer E PoseyBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
James R LupskiTexas Children's Hospital
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiTexas Children's Hospital
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
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Release 1.2