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Year | Number of Results |
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2018 | 1 |
2023 | 1 |
2024 | 0 |
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A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome.
Cold Spring Harb Mol Case Stud. 2018 Jun 1;4(3):a002410. doi: 10.1101/mcs.a002410. Print 2018 Jun.
Cold Spring Harb Mol Case Stud. 2018.
PMID: 29305346
Free PMC article.
A Novel Variant in RAD21 in Cornelia De Lange Syndrome Type 4: Case Report and Bioinformatic Analysis.
De Falco A, De Brasi D, Della Monica M, Cesario C, Petrocchi S, Novelli A, D'Alterio G, Iolascon A, Capasso M, Piscopo C.
De Falco A, et al.
Genes (Basel). 2023 Jan 1;14(1):119. doi: 10.3390/genes14010119.
Genes (Basel). 2023.
PMID: 36672860
Free PMC article.
The index patient presented with clinical characteristics previously associated with CdLS type 4 (short nose, thick eyebrow, global development delay, synophrys, microcephaly, weight < 2DS, small hands, height < 2DS). ...
The index patient presented with clinical characteristics previously associated with CdLS type 4 (short nose, thick eyebrow, g …
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