Artúr Beke (ed.)

Genetic background of gynecological diseases

Rare gynecological diseases with genetic origin

Fraser syndrome

Fraser syndrome (also known as Meyer-Schwickerath's syndrome, Fraser-François syndrome, or Ullrich-Feichtinger syndrome) is inherited in an autosomal recessive manner. The genetic basis of the disorder is a defect in the FRAS1 gene (Fraser Extracellular Matrix Complex Subunit 1, formerly known as FRASRS1). This gene is involved in the epithelial morphogenesis of the skin during early development. The FREM2 gene (FRAS1 Related Extracellular Matrix 2, formerly known as FRASRS2, FRAS1-Related Extracellular Matrix Protein 2, CRYPTOP) and the GRIP1 gene (Glutamate Receptor Interacting Protein 1) have also been associated with the syndrome. The main symptoms are: cryptophthalmos, nasal and ear anomalies, laryngeal stenosis, renal agenesis, mental retardation.

Genetic background of gynecological diseases

Tartalomjegyzék

Kiadó: Akadémiai Kiadó

Online megjelenés éve: 2024

ISBN: 978 963 664 024 8

Orvostudomány

Our book was written with the intention of filling a gap. It is the work of specialists - university lecturers, researchers, clinicians - who come across the described symptoms in their daily practice.

Many previously published publications deal with the gynecological pathologies discussed in the volume, but from the perspective of genetics as an etiological factor, focusing on the genetic background of pathological conditions and women's diseases, no book has yet been published. Nowadays, science is developing rapidly, and almost all diseases are subjected to genetic testing during research. For this reason, only those pathologies will be presented for which the tests so far have clearly confirmed the genetic background, that is, those pathologies for which the possibility of a genetic cause has arisen, but cannot yet be clearly proven, do not form the material of the book.

We recommend the book primarily to health professionals, geneticists, obstetricians and gynecologists, pedoatric gynecologists, and pediatricians, and those preparing for special exams. Medical students and midwifery students interested in the topic can find important information in it, and it can also be useful for "non-specialists".

Hivatkozás: https://mersz.hu/beke-genetic-background-of-gynecological-diseases//

BibTeX EndNote Mendeley Zotero