Scholarlink

<p>Hereditary sensory and autonomic neuropathy type 6 (HSAN-VI) is a rare autosomal recessive neurological disorder that affects fewer than 1 in 1,000,000 individuals worldwide and is characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired motor development and autonomic abnormalities with highly variable age of onset and severity. Here we report a novel homozygous <i>DST</i> variant in association with HSAN-VI in two Pakistani siblings.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

A novel homozygous DST variant causes hereditary sensory and autonomic neuropathy in a Pakistani family

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年11月18日

查看全文
  • Asad Munir,
  • Helen Nabiryo Frederiksen,
  • Fawad Ali,
  • Sabawoon Shah,
  • Abdur Rashid,
  • Sergey Oreshkov,
  • Kashif Khan,
  • Muhammad Shahzeb,
  • Inam Ullah,
  • Hamid Ur Rahman,
  • Mukhtar Ullah,
  • Muhammad Ansar,
  • Atta Ur Rehman

摘要

Hereditary sensory and autonomic neuropathy type 6 (HSAN-VI) is a rare autosomal recessive neurological disorder that affects fewer than 1 in 1,000,000 individuals worldwide and is characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired motor development and autonomic abnormalities with highly variable age of onset and severity. Here we report a novel homozygous DST variant in association with HSAN-VI in two Pakistani siblings.