QR-kod

Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting in <i>MED13L</i> Haploinsufficiency Syndrome

<i>Background and Objectives:</i> Heterozygous pathogenic variants in the <i>MED13L</i> gene cause impaired intellectual development and distinctive facial features with or without cardiac defects (MIM #616789). This complex neurodevelopmental disorder is characterised by various phenotypic features...

Full beskrivning

Sparad:
Huvudupphov: Evelina Siavrienė, Gunda Petraitytė, Violeta Mikštienė, Živilė Maldžienė, Aušra Sasnauskienė, Vilmantė Žitkutė, Laima Ambrozaitytė, Tautvydas Rančelis, Algirdas Utkus, Vaidutis Kučinskas, Eglė Preikšaitienė
Materialtyp: Artigo
Språk:Inglês
Utgiven: MDPI AG 2023-06-01
Serie:Medicina
Ämnen:
<i>MED13L</i> haploinsufficiency syndrome
intellectual disability
congenital anomalies
molecular and functional analysis
CRISPR-Cas9
Länkar:https://www.mdpi.com/1648-9144/59/7/1225
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk