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Article

The first Slovak Legius syndrome patient carrying the SPRED1 gene mutation.

General physiology and biophysics - 1 Apr 2017

Sekelska Martina, Briatkova Lenka, Olcak Tomas, Bolcekova Anna, Ilencikova Denisa, Kadasi Ludevit, Zatkova Andrea

Abstract excerpt

Autosomal dominant disorder Legius syndrome (NF1- like syndrome) shows phenotype features that overlap with neurofibromatosis type 1 (NF1), such as CALMs, freckling, macrocephaly and learning disability. Mutation analysis provides an important tool in order to distinguish two entities that have different clinical implications. We analyzed SPRED1 gene by cDNA and/or gDNA sequencing in a cohort of 46 Slovak...

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Source

Identifiers

PMID: 28150585
DOI: 10.4149/gpb_2016032

Genes

SPRED1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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