Tweet Review
Content of review 1, reviewed on July 07, 2021
1 Well-written and succinct
2. Important addition to literature on this newly-recognized entity of ZNFX1 mut / deficiency especially the patient histories
3. No downstream translational experiments; all variant predictions used in silico tools only but this does not preclude this case series from publication
4. Would be useful to add information on treatment / management and for those who died, the cause of death and/or duration of last follow-up for ALL patients (Supp data).
5. Would be of interest to add in the "Discussion" section what role ZNFX1 has in development of CNS to explain the associated neurological findings
6. Proof-reading required ; eg Page 19 - "Paleness" (prefer "Pallor") and "She also presented hepatomegaly" - the word 'with' is missing
Source
© 2021 the Reviewer.
Content of review 2, reviewed on October 23, 2021
The authors have sufficiently addressed the comments of the reviewers
Source
© 2021 the Reviewer.
References
Salem, A., Ana, W., Natalia, O., Mariam, A., Homoud, A. H., Fahad, A. A., M., A. A., Ghaleb, E., Andre, M., Melis, K., Nadia, A., Nashat, A. S., Mohammed, A., Samah, A., Adas, B. O. A., Fadiah, A., Danielle, S., Ruslan, A., Suliman, K., Hasan, T., Kornelia, T., Vasiliki, K., Roberta, T., Fuad, A. M., Bruno, R., Peter, B., M., B. A. 2022. Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities. Clinical Genetics.
