A new case of intragenic deletion of the TCF4 gene without features of Pitt-Hopkins syndrome
Different genomic alterations affecting the TCF4 gene are usually associated with Pitt-Hopkins syndrome (PTHS). This syndrome is a rare neurodevelopmental genetic disorder characterized by distinctive facial features, abnormal breathing, psychomotor delay and severe intellectual disability (ID). The...
| Permalink: | http://skupni.nsk.hr/Record/nsk.NSK01001122393 |
|---|---|
| Matična publikacija: |
Molecular and experimental biology in medicine 3 (2020), 2 ; str. 56-58 |
| Glavni autori: | Morožin Pohovski, Leona (Author), Bobinec, Adrijana, Meašić, Ana-Maria, Sansović, Ivona, Barišić, Ingeborg |
| Vrsta građe: | e-članak |
| Jezik: | eng |
| Predmet: | |
| Online pristup: |
https://doi.org/10.33602/mebm.3.2.8 Molecular and experimental biology in medicine Hrčak |
Održavanje sustava u tijeku
Sustav je trenutačno nedostupan zbog održavanja.
Zapisi o posjedovanju i primjercima trenutačno nisu dostupni. Za više informacija kontaktirajte osoblje knjižnice ili pošaljite upit administratoru:
Internet
https://doi.org/10.33602/mebm.3.2.8Molecular and experimental biology in medicine
Hrčak