Artúr Beke (ed.)

Genetic background of gynecological diseases

Rare gynecological diseases with genetic origin

Jarcho-Levin syndrome

The Jarcho-Levin syndrome (JLS) (also known as spondylocostal dysplasia, spondylocostal dysostosis) is mostly autosomal recessive. It is caused by mutations in the DLL3 gene (Delta Like Canonical Notch Ligand 3), MESP2 gene (Mesoderm Posterior BHLH Transcription Factor 2), LFNG gene (LFNG O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase), or HES7 gene (Hes Family BHLH Transcription Factor 7). In rare cases, it may be autosomal dominant, in which case the TBX6 gene (T-Box Transcription Factor 6) is defective. Symptoms of the disorder include: spondylocostal dysostosis: hemivertebrae, respiratory abnormalities, cardiac abnormalities, short neck and chest, inguinal hernia, and in some cases genital malformations.

Genetic background of gynecological diseases

Tartalomjegyzék

Kiadó: Akadémiai Kiadó

Online megjelenés éve: 2024

ISBN: 978 963 664 024 8

Orvostudomány Idegen nyelvű

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//

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