Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies

Author:

Szabó Tamás,Orosz Petronella,Balogh Eszter,Jávorszky Eszter,Máttyus István,Bereczki Csaba,Maróti Zoltán,Kalmár Tibor,Szabó Attila J,Reusz George,Várkonyi Ildikó,Marián Erzsébet,Gombos Éva,Orosz Orsolya,Madar László,Balla György,Kappelmayer János,Tory Kálmán,Balogh IstvánORCID

Funder

OTKA

Ministry of National Economy, Hungary

MTA-SE Lendulet Research Grant

NKFIA/OTKA

Publisher

Springer Science and Business Media LLC

Subject

Nephrology,Pediatrics, Perinatology, and Child Health

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3. Lu H, Galeano MCR, Ott E, Kaeslin G, Kausalya PJ, Kramer C, Ortiz-Bruchle N, Hilger N, Metzis V, Hiersche M, Tay SY, Tunningley R, Vij S, Courtney AD, Whittle B, Wuhl E, Vester U, Hartleben B, Neuber S, Frank V, Little MH, Epting D, Papathanasiou P, Perkins AC, Wright GD, Hunziker W, Gee HY, Otto EA, Zerres K, Hildebrandt F, Roy S, Wicking C, Bergmann C (2017) Mutations in DZIP1L, which encodes a ciliary-transition-zone protein, cause autosomal recessive polycystic kidney disease. Nat Genet 49:1025–1034

4. Cabezas OR, Flanagan SE, Stanescu H, Garcia-Martinez E, Caswell R, Lango-Allen H, Anton-Gamero M, Argente J, Bussell AM, Brandli A, Cheshire C, Crowne E, Dumitriu S, Drynda R, Hamilton-Shield JP, Hayes W, Hofherr A, Iancu D, Issler N, Jefferies C, Jones P, Johnson M, Kesselheim A, Klootwijk E, Koettgen M, Lewis W, Martos JM, Mozere M, Norman J, Patel V, Parrish A, Perez-Cerda C, Pozo J, Rahman SA, Sebire N, Tekman M, Turnpenny PD, Hoff WV, Viering D, Weedon MN, Wilson P, Guay-Woodford L, Kleta R, Hussain K, Ellard S, Bockenhauer D (2017) Polycystic kidney disease with hyperinsulinemic hypoglycemia caused by a promoter mutation in phosphomannomutase 2. J Am Soc Nephrol 28:2529–2539

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