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Items: 2

1.

Remembering MUDPILES: A Case of Unexplained Metabolic Acidosis.

Suntum T, Allen N, Pagano S, Jaworski ML, Duncan L, Lee CC.

Hosp Pediatr. 2017 Jun;7(6):357-360. doi: 10.1542/hpeds.2016-0132. Epub 2017 May 9. No abstract available.

2.

An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome.

Paige Taylor S, Kunova Bosakova M, Varecha M, Balek L, Barta T, Trantirek L, Jelinkova I, Duran I, Vesela I, Forlenza KN, Martin JH, Hampl A; University of Washington Center for Mendelian Genomics, Bamshad M, Nickerson D, Jaworski ML, Song J, Ko HW, Cohn DH, Krakow D, Krejci P.

Hum Mol Genet. 2016 Sep 15;25(18):3998-4011. doi: 10.1093/hmg/ddw240. Epub 2016 Jul 27.

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