A case of multiple genomic anomalies (the combination of Ehlers — Danlos syndrome vascular type and Loeys — Dietz syndrome type 2) in a child

A case of multiple genomic anomalies (the combination of Ehlers — Danlos syndrome vascular type and Loeys — Dietz syndrome type 2) in a child

Hereditary connective tissue diseases are widespread in the world. There are doctors of various specialities: pediatricians, surgeons, as well as doctors of narrow specialties: cardiologists, ophthalmologists and others, which deal with syndromes, included in this group of diseases. Currently, verif...

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Bibliographic Details
Main Authors: A. E. Sipyagina, L. S. Baleva, E. N. Yakusheva, A. N. Semyachkina, E. A. Potrokhova
Format: Article
Language:Russian
Published: Open Systems Publication 2022-10-01
Series:Лечащий Врач
Subjects:
child
connective tissue dysplasia
ehlers – danlos syndrome
loеys – dietz syndrome
genotype
molecular genetic diagnosis
col3a1 gene
tgfbr2 gene
Online Access:https://journal.lvrach.ru/jour/article/view/973
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