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Year | Number of Results |
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2004 | 1 |
2016 | 1 |
2017 | 1 |
2024 | 0 |
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A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel.
J Pediatr Endocrinol Metab. 2016 Sep 1;29(9):1111-4. doi: 10.1515/jpem-2015-0482.
J Pediatr Endocrinol Metab. 2016.
PMID: 27544718
A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE.
Hamzeh AR, Saif F, Nair P, Binjab AJ, Mohamed M, Al-Ali MT, Bastaki F.
Hamzeh AR, et al.
BMC Pediatr. 2017 Jan 19;17(1):31. doi: 10.1186/s12887-017-0781-4.
BMC Pediatr. 2017.
PMID: 28103835
Free PMC article.
This frameshift deletion, being close to N-terminus of FGD1, is predicted to shift the reading frame in a way that it translates to 105 erroneous amino acids followed by a premature stop codon at position 106. ...CONCLUSIONS: A novel variant in FGD1 was found in an Emirati …
This frameshift deletion, being close to N-terminus of FGD1, is predicted to shift the reading frame in a way that it translates to 1 …
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Novel alternative splicing of human faciogenital dysplasia 1 gene.
Yanagi K, Kaname T, Chinen Y, Naritomi K.
Yanagi K, et al.
Congenit Anom (Kyoto). 2004 Sep;44(3):137-41. doi: 10.1111/j.1741-4520.2004.00026.x.
Congenit Anom (Kyoto). 2004.
PMID: 15327482
Insertion of each novel exon results in production of a premature termination codon, respectively, and the predicted proteins generated from them have only a proline-rich domain and an incomplete DH domain which potentially compete with the wild type of FGD1....
Insertion of each novel exon results in production of a premature termination codon, respectively, and the predicted proteins generat …
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