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Prenatal Detection of Novel Compound Heterozygous Splice Site Variants of the KIAA0825 Gene in a Fetus with Postaxial Polydactyly Type A.
Yao Y, Deng S, Zhu F. Yao Y, et al. Genes (Basel). 2022 Jul 11;13(7):1230. doi: 10.3390/genes13071230. Genes (Basel). 2022. PMID: 35886013 Free PMC article.
In the present study, a fetus manifesting non-syndromic postaxial polydactyly type A (PAPA) was found by fetal ultrasonography. To better evaluate fetal prognosis, SNP array analysis and trio whole-exome sequencing (trio-WES) were performed to identify the underlying etiol …
In the present study, a fetus manifesting non-syndromic postaxial polydactyly type A (PAPA) was found by fetal ultrasonography. To better ev …
Identification of a novel biallelic missense variant in the KIAA0825 underlies postaxial polydactyly type A.
Hayat A, Umair M, Abbas S, Rauf A, Ahmad F, Ullah S, Ahmad W, Khan B. Hayat A, et al. Genomics. 2020 Jul;112(4):2729-2733. doi: 10.1016/j.ygeno.2020.03.006. Epub 2020 Mar 5. Genomics. 2020. PMID: 32147526 Free article.
(Leu17Ser)] in the gene, which co-segregated with the disease within the family. Protein structural analysis predicted a substantial change in the secondary structure of the mutant protein affecting its function. ...
(Leu17Ser)] in the gene, which co-segregated with the disease within the family. Protein structural analysis predicted a substantial …
The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.
Radhakrishna U, Bornholdt D, Scott HS, Patel UC, Rossier C, Engel H, Bottani A, Chandal D, Blouin JL, Solanki JV, Grzeschik KH, Antonarakis SE. Radhakrishna U, et al. Am J Hum Genet. 1999 Sep;65(3):645-55. doi: 10.1086/302557. Am J Hum Genet. 1999. PMID: 10441570 Free PMC article.