Associated Papers
Autosomal Recessive Spastic Paraplegia and Psychomotor Retardation With or Without Seizures: A Case Report From Saudi Arabia.
Alzaidan H et al.
Cureus, 2024
Previously Undescribed Gross HACE1 Deletions as a Cause of Autosomal Recessive Spastic Paraplegia.
Kovalskaia VA et al.
Genes, 2022
Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas.
Zhong G et al.
Hgg Advances, 2022
A novel loss-of-function mutation in HACE1 is linked to a genetic disorder in a patient from India.
Hariharan N et al.
Human Genome Variation, 2018
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.
Akawi N et al.
Nature Genetics, 2015
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