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Congenital adrenal calcifications as the first clinical indication of sphingosine lyase insufficiency syndrome: A case report and review of the literature.
Am J Med Genet A. 2022 Nov;188(11):3312-3317. doi: 10.1002/ajmg.a.62956. Epub 2022 Aug 16.
Am J Med Genet A. 2022.
PMID: 35972040
Free PMC article.
Review.
Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study.
Ron HA, Crowley TB, Liu Y, Unolt M, Schindewolf E, Moldenhauer J, Rychik J, Goldmuntz E, Emanuel BS, Ryba D, Gaynor JW, Zackai EH, Hakonarson H, McDonald-McGinn DM.
Ron HA, et al.
Genes (Basel). 2022 Dec 24;14(1):62. doi: 10.3390/genes14010062.
Genes (Basel). 2022.
PMID: 36672801
Free PMC article.
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