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GeneReviews® [Internet].
Adam MP, Bick S, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2026.
GeneReviews by Title GeneReviews Advanced Search Help
Maple Syrup Urine Disease.
Strauss KA, Puffenberger EG, Carson VJ. 2006 Jan 30 [Updated 2020 Apr 23].
Neurofibromatosis 1.
Friedman JM. 1998 Oct 2 [Updated 2025 Apr 3].
Li-Fraumeni Syndrome.
Schneider K, Zelley K, Nichols KE, et al. 1999 Jan 19 [Updated 2025 May 1].
Hypermanganesemia with Dystonia 1.
Tuschl K, Clayton PT, Gospe SM Jr, et al. 2012 Aug 30 [Updated 2021 Dec 23].
LZTR1- and SMARCB1-Related Schwannomatosis.
Dhamija R, Plotkin S, Gomes A, et al. 2018 Mar 8 [Updated 2025 Dec 4].
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia.
Nimkarn S, Gangishetti PK, Yau M, et al. 2002 Feb 26 [Updated 2016 Feb 4].
Isolated Methylmalonic Acidemia.
Manoli I, Sloan JL, Venditti CP. 2005 Aug 16 [Updated 2022 Sep 8].
Pompe Disease.
Sperry E, Leslie N, Berry L, et al. 2007 Aug 31 [Updated 2025 Aug 21].
Molybdenum Cofactor Deficiency.
Misko A, Mahtani K, Abbott J, et al. 2021 Dec 2 [Updated 2023 Feb 2].
Hereditary Paraganglioma-Pheochromocytoma Syndromes.
Else T, Greenberg S, Fishbein L. 2008 May 21 [Updated 2023 Sep 21].
Bloom Syndrome.
Langer K, Cunniff CM, Kucine N. 2006 Mar 22 [Updated 2023 Oct 12].
FH Tumor Predisposition Syndrome.
Kamihara J, Schultz KA, Rana HQ. 2006 Jul 31 [Updated 2025 May 8].
SLC39A14 Deficiency.
Tuschl K, Gregory A, Meyer E, et al. 2017 May 25 [Updated 2022 Dec 8].
POT1 Tumor Predisposition.
Accardo ML, Osborne J, Else T. 2020 Oct 29 [Updated 2025 Dec 4].
PIK3CA-Related Overgrowth Spectrum.
Mirzaa G, Graham JM Jr, Keppler-Noreuil K. 2013 Aug 15 [Updated 2023 Apr 6].
Dystrophic Epidermolysis Bullosa.
Lucky AW, Pope E, Crawford S. 2006 Aug 21 [Updated 2026 Aug 18].
GRIN2B-Related Neurodevelopmental Disorder.
Platzer K, Lemke JR. 2018 May 31 [Updated 2021 Mar 25].
Cornelia de Lange Syndrome.
Deardorff MA, Raible SE, Krantz ID. 2005 Sep 16 [Updated 2026 Jun 16].
GNAO1-Related Disorder.
Briere L, Thiel M, Sweetser DA, et al. 2023 Nov 9.
Congenital Central Hypoventilation Syndrome.
Weese-Mayer DE, Rand CM, Khaytin I, et al. 2004 Jan 28 [Updated 2021 Jan 28].
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