Deciphering a Novel TTI2 Mutation in a Saudi Proband with IDDAR39: A Clinical and Genetic Study
Background: Intellectual Developmental Disorder, Autosomal Recessive 39 (IDDAR39) is a rare inherited condition caused by mutated TTI2 gene. The condition is characterized by intellectual disability and developmental delays, among other clinical features. Methods: We conducted a genetic study in a...
Saved in:
| Main Authors: | Muhammad Umair, Saleh Althenayyan, Raja Hussain Ali |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Discover STM Publishing Ltd
2024-02-01
|
| Series: | Journal of Biochemical and Clinical Genetics |
| Subjects: | |
| Online Access: | https://www.jbcgenetics.com/?mno=233313 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
TTI1 contributes to radioresistance by activating ATM pathway in rectal cancer
by: Jingying Wang, et al.
Published: (2025-06-01) -
Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency
by: Mustafa Kılıç, et al.
Published: (2017-12-01) -
Applying TTIED-CMYK Algorithm in Wireless Sensor Networks Based on Raspberry pi and DHT-11
by: Noor Sattar Noor, et al.
Published: (2022-09-01) -
Clinicoradiological profile of children presenting with global developmental delay and microcephaly
by: ShreyasT.S. Phayde, et al.
Published: (2025-07-01) -
Genetic Heterogeneity in Four Probands Reveals <i>HGSNAT</i>, <i>KDM6B</i>, <i>LMNA</i> and <i>WFS1</i> Related Neurodevelopmental Disorders
by: Behjat Ul Mudassir, et al.
Published: (2024-11-01)