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Article

Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1.

American journal of medical genetics. Part A - 1 Dec 2021

Uludağ Alkaya Dilek, Lissewski Christina, Yeşil Gözde, Zenker Martin, Tüysüz Beyhan

Abstract excerpt

RASopathies are a group of disorders caused by pathogenic variants in the genes encoding Ras/mitogen-activated protein kinase pathway and share overlapping clinical and molecular features. This study is aimed to describe the clinical and molecular features of 38 patients with RASopathies. Sanger or targeted next-generation sequencing of related genes and multiplex ligation-dependent-probe amplification analysis...

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PMID: 34184824
DOI: 10.1002/ajmg.a.62410

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Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1.PMID 34184824Read ↗

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