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Comment
. 2020 Aug 1;143(8):e65.
doi: 10.1093/brain/awaa177.

Reply: Another case of holoprosencephaly associated with RAD21 loss-of-function variant

Paul Kruszka  1
Affiliations
Comment

Reply: Another case of holoprosencephaly associated with RAD21 loss-of-function variant

Paul Kruszka. Brain. .
No abstract available

PubMed Disclaimer

Comment on

  • Cohesin complex-associated holoprosencephaly.
    Kruszka P, Berger SI, Casa V, Dekker MR, Gaesser J, Weiss K, Martinez AF, Murdock DR, Louie RJ, Prijoles EJ, Lichty AW, Brouwer OF, Zonneveld-Huijssoon E, Stephan MJ, Hogue J, Hu P, Tanima-Nagai M, Everson JL, Prasad C, Cereda A, Iascone M, Schreiber A, Zurcher V, Corsten-Janssen N, Escobar L, Clegg NJ, Delgado MR, Hajirnis O, Balasubramanian M, Kayserili H, Deardorff M, Poot RA, Wendt KS, Lipinski RJ, Muenke M. Kruszka P, et al. Brain. 2019 Sep 1;142(9):2631-2643. doi: 10.1093/brain/awz210. Brain. 2019. PMID: 31334757 Free PMC article.
  • Another case of holoprosencephaly associated with RAD21 loss-of-function variant.
    Goel H, Parasivam G. Goel H, et al. Brain. 2020 Aug 1;143(8):e64. doi: 10.1093/brain/awaa173. Brain. 2020. PMID: 32696056 No abstract available.

References

    1. Goel H, Parasivam G. Another case of holoprosencephaly associated with RAD21 loss-of-function variant. Brain 2020; 143: e64. - PubMed
    1. Grinblat Y, Lipinski RJ.. A forebrain undivided: unleashing model organisms to solve the mysteries of holoprosencephaly. Dev Dyn 2019; 248: 626–33. - PubMed
    1. Hughes JJ, Alkhunaizi E, Kruszka P, Pyle LC, Grange DK, Berger SI, et al.Loss-of-function variants in PPP1R12A: from isolated sex reversal to holoprosencephaly spectrum and urogenital malformations. Am J Hum Genet 2020; 106: 121–8. - PMC - PubMed
    1. Kline AD, Moss JF, Selicorni A, Bisgaard AM, Deardorff MA, Gillett PM, et al.Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. Nat Rev Genet 2018; 19: 649–66. - PMC - PubMed
    1. Kruszka P, Berger SI, Casa V, Dekker MR, Gaesser J, Weiss K, et al.Cohesin complex-associated holoprosencephaly. Brain 2019; 142: 2631–43. - PMC - PubMed