Associated Papers
Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China.
Huang C et al.
Annals of Medicine, 2025
39757988 (PubMed )
Supplement: IANN_A_2447421_SM2148.zip › suppl_data › Table_S3.xlsx › Table_S3
Clinical and genetic investigation of 14 families with various forms of short stature syndromes.
Khan FU et al.
Clinical Genetics, 2024
Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations.
Colombo EA et al.
Frontiers in Pediatrics, 2019
Improved transcription and translation with L-leucine stimulation of mTORC1 in Roberts syndrome.
Xu B et al.
Bmc Genomics, 2016
Stimulation of mTORC1 with L-leucine rescues defects associated with Roberts syndrome.
Xu B et al.
Plos Genetics, 2013
The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature.
Goh ES et al.
American Journal of Medical Genetics. Part A, 2010
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.
Gordillo M et al.
Human Molecular Genetics, 2008
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