Microcephaly, Short Stature, Intellectual Disability, Speech Absence and Cataract Are Associated with Novel Bi-Allelic Missense Variant in <i>RTTN</i> Gene: A Seckel Syndrome Case Report
The <i>RTTN</i> gene encodes centriole biogenesis, replication, symmetry and cohesion, basal body organization and has recently been associated with the appearance of microcephaly syndromes. <i>RTTN</i>-related neurological defects including microcephaly, intellectual disabil...
Збережено в:
Автори: | , |
---|---|
Формат: | Книга |
Опубліковано: |
MDPI AG,
2023-06-01T00:00:00Z.
|
Предмети: | |
Онлайн доступ: | Connect to this object online. |
Теги: |
Додати тег
Немає тегів, Будьте першим, хто поставить тег для цього запису!
|
Інтернет
Connect to this object online.3rd Floor Main Library
Шифр: |
A1234.567 |
---|---|
Примірник 1 | Доступно |