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CC2D1A causes ciliopathy, intellectual disability, heterotaxy, renal dysplasia, and abnormal CSF flow.
Kim AH, Sakin I, Viviano S, Tuncel G, Aguilera SM, Goles G, Jeffries L, Ji W, Lakhani SA, Kose CC, Silan F, Oner SS, Kaplan OI; MarmaRare Group; Ergoren MC, Mishra-Gorur K, Gunel M, Sag SO, Temel SG, Deniz E. Kim AH, et al. Among authors: ji w. Life Sci Alliance. 2024 Aug 21;7(10):e202402708. doi: 10.26508/lsa.202402708. Print 2024 Oct. Life Sci Alliance. 2024. PMID: 39168639 Free PMC article.
Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum.
Kiraly-Borri C, Jevon G, Ji W, Jeffries L, Ricciardi JL, Konstantino M, Ackerman KG, Lakhani SA. Kiraly-Borri C, et al. Among authors: ji w. Cold Spring Harb Mol Case Stud. 2019 Jun 3;5(3):a003699. doi: 10.1101/mcs.a003699. Print 2019 Jun. Cold Spring Harb Mol Case Stud. 2019. PMID: 30819764 Free PMC article.
4,409 results