Content of review 1, reviewed on February 09, 2020

I read the manuscript entitled "A GLI3 variant leading to polydactyly in heterozygotes and Pallister-Hall-like syndrome in a homozygote" with great interest.

Specific comments;
The variant (c.1927C>T; p. Arg643*) reported in this study has already been reported in post axial polydactyly (PAP) (PMCID: PMC1377970, PMID: 24667698). Moreover, more than 250 mutations in GLI3 have been associated with PAP, Pallister-Hall syndrome, and Greig cephalopolysyndactyly syndrome.

General comments:
-The manuscript lacks novelty.
-Please cite the following relevant publications
PMID: 31115189, PMID: 30459804, PMID: 28488682, PMID: 23160277, PMID: 28973407, PMID: 30620395, PMID: 30395363, PMID: 30945277, PMID: 31573334

Source

    © 2020 the Reviewer.

References

    Ariana, K., Siavash, G., Elham, K., Abolghasem, H. S., Elham, P., Emmanuelle, S., Muznah, K., Faraji, Z. M., Bruno, R., Hossein, N., C., H. R. 2020. A GLI3 variant leading to polydactyly in heterozygotes and Pallister-Hall-like syndrome in a homozygote. Clinical Genetics.