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Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications.
Hum Mutat. 2017 Apr;38(4):365-372. doi: 10.1002/humu.23192. Epub 2017 Mar 6.
Hum Mutat. 2017.
PMID: 28181337
Free PMC article.
Prenatal bilateral adrenal calcifications, hypogonadism, and nephrotic syndrome: beyond Wolman disease.
Schreyer-Shafir N, Sukenik-Halevy R, Tepper R, Arnon S, Litmanovitch I, Eliakim A, Pommeranz A, Ludman MD, Raas-Rothschild A.
Schreyer-Shafir N, et al.
Prenat Diagn. 2014 Jun;34(6):608-11. doi: 10.1002/pd.4344. Epub 2014 Apr 27.
Prenat Diagn. 2014.
PMID: 24777844
No abstract available.
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A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics.
Schreyer-Shafir N, Huizing M, Anikster Y, Nusinker Z, Bejarano-Achache I, Maftzir G, Resnik L, Helip-Wooley A, Westbroek W, Gradstein L, Rosenmann A, Blumenfeld A.
Schreyer-Shafir N, et al.
Hum Mutat. 2006 Nov;27(11):1158. doi: 10.1002/humu.9463.
Hum Mutat. 2006.
PMID: 17041891
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