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一位患有新型PORCN变异和额外临床特征的患者的长期随访

Akçahan Akalın1, Karl-Heinz Grzeschik2, Eda Utine1

  • 1Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Molecular syndromology
|June 6, 2024
PubMed
概括

焦点皮肤缺血症 (FDH),一种由PORCN基因变异引起的基因皮肤病,呈现出新的特征,包括隔膜透和早熟青春期. 这个案例扩大了对FDH的理解.

关键词:
基因皮质变质症 (genodermatosis) 是一种肢体形 肢体形 肢体形猪猪是什么 猪猪是什么过早的青春期 过早的青春期

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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