Artúr Beke (ed.)

Genetic background of gynecological diseases

Rare gynecological diseases with genetic origin


Hydrolethalus syndrome (HLS)

Hydrolethalus syndrome (HLS) is a serious condition with autosomal recessive inheritance that can lead to intrauterine death. It is caused by a missense mutation in the HYLS1 gene (HYLS1 Centriolar And Ciliogenesis Associated) on chromosome 11. HYLS1 is responsible for ciliary development. A mutation in the KIF7 gene (Kinesin Family Member 7) is also involved. Symptoms include: hydrocephalus, neural tube defects, micrognathia, deep-set eyes, cleft palate, respiratory abnormalities, cardiac abnormalities, club foot, polydactyly.

Genetic background of gynecological diseases

Tartalomjegyzék


Kiadó: Akadémiai Kiadó

Online megjelenés éve: 2024

ISBN: 978 963 664 024 8

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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