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Pitfalls in the Diagnosis of Hereditary Fructose Intolerance.
Kim AY, Hughes JJ, Pipitone Dempsey A, Sondergaard Schatz K, Wang T, Gunay-Aygun M. Kim AY, et al. Among authors: hughes jj. Pediatrics. 2020 Aug;146(2):e20193324. doi: 10.1542/peds.2019-3324. Pediatrics. 2020. PMID: 32709737
Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.
Hughes JJ, Alkhunaizi E, Kruszka P, Pyle LC, Grange DK, Berger SI, Payne KK, Masser-Frye D, Hu T, Christie MR, Clegg NJ, Everson JL, Martinez AF, Walsh LE, Bedoukian E, Jones MC, Harris CJ, Riedhammer KM, Choukair D, Fechner PY, Rutter MM, Hufnagel SB, Roifman M, Kletter GB, Delot E, Vilain E, Lipinski RJ, Vezina CM, Muenke M, Chitayat D. Hughes JJ, et al. Am J Hum Genet. 2020 Jan 2;106(1):121-128. doi: 10.1016/j.ajhg.2019.12.004. Epub 2019 Dec 26. Am J Hum Genet. 2020. PMID: 31883643 Free PMC article.
38 results