Author(s): Rolfs, Prof. Arndt, MD, Ilgaz Aydinlar, Prof. Elif, MD, Serteser, Prof. Mustafa, MD, Parman, Prof. Yesim, MD
We report the clinical and pathological findings of 2 siblings with HSAN type 2 due to a homozygous mutation in FAM134B. Read more!
Hereditary sensory and autonomic neuropathy (HSAN) type 2 is a rare autosomal recessive disease that was first described by Ota et al in 1973 (1). We report the clinical and pathological findings of 2 siblings with HSAN type 2 due to a homozygous mutation in FAM134B.
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