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Page 1
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
NPJ Genom Med. 2024 Mar 1;9(1):18. doi: 10.1038/s41525-024-00398-9.
NPJ Genom Med. 2024.
PMID: 38429302
Free PMC article.
Cantù syndrome: Report of a patient with a novel variant in KCNJ8 and revision of literature.
Apuril Velgara ES, Mariani M, Torella A, Musacchia F; Telethon Undiagnosed Diseases Program (TUDP) consortium; Nigro V, Selicorni A.
Apuril Velgara ES, et al.
Am J Med Genet A. 2022 Jun;188(6):1661-1666. doi: 10.1002/ajmg.a.62710. Epub 2022 Mar 3.
Am J Med Genet A. 2022.
PMID: 35243770
Review.
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ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.
Kushary ST, Revah-Politi A, Barua S, Ganapathi M, Accogli A, Aggarwal V, Brunetti-Pierri N, Cappuccio G, Capra V, Fagerberg CR, Gazdagh G, Guzman E, Hadonou M, Harrison V, Havelund K, Iancu D, Kraus A, Lippa NC, Mansukhani M, McBrian D, McEntagart M, Pacio-Míguez M, Palomares-Bralo M, Pottinger C, Ruivenkamp CAL, Sacco O, Santen GWE, Santos-Simarro F, Scala M, Short J, Sørensen KP, Woods CG; DDD Study; TUDP Consortium; Anyane Yeboa K.
Kushary ST, et al.
Am J Med Genet A. 2021 Dec;185(12):3740-3753. doi: 10.1002/ajmg.a.62445. Epub 2021 Jul 31.
Am J Med Genet A. 2021.
PMID: 34331327
Free PMC article.
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Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females.
Scala M, Torella A, Severino M, Morana G, Castello R, Accogli A, Verrico A, Vari MS, Cappuccio G, Pinelli M, Vitiello G, Terrone G, D'Amico A; TUDP consortium; Nigro V, Capra V.
Scala M, et al.
Eur J Hum Genet. 2019 Aug;27(8):1254-1259. doi: 10.1038/s41431-019-0392-7. Epub 2019 Apr 1.
Eur J Hum Genet. 2019.
PMID: 30936465
Free PMC article.
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