Associated Papers
A pathogenic P4HTM gene variant in two brothers with autism spectrum disorder.
Gülcü Üstün NS
Psychiatric Genetics, 2024
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
37799141 (PubMed )
Supplement: Table1.xlsx › Supplementary_table_1._
Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiency.
Hay E et al.
European Journal of Human Genetics : Ejhg, 2021
Further delineation of HIDEA syndrome.
Maddirevula S et al.
American Journal of Medical Genetics. Part A, 2020
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