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GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
GeneReviews by Title GeneReviews Advanced Search Help
Cystic Fibrosis.
Savant A, Lyman B, Bojanowski C, et al. 2001 Mar 26 [Updated 2024 Aug 8].
STAT3 Hyper IgE Syndrome.
Hsu AP, Davis J, Puck JM, et al. 2010 Feb 23 [Updated 2020 Mar 26].
Dystrophic Epidermolysis Bullosa.
Pfendner EG, Lucky AW. 2006 Aug 21 [Updated 2018 Sep 13].
Junctional Epidermolysis Bullosa.
Pfendner EG, Lucky AW. 2008 Feb 22 [Updated 2018 Dec 20].
Epidermolysis Bullosa with Pyloric Atresia.
Lucky AW, Gorell E. 2008 Feb 22 [Updated 2023 Jan 26].
Primary Ciliary Dyskinesia.
Zariwala MA, Knowles MR, Leigh MW. 2007 Jan 24 [Updated 2019 Dec 5].
Epidermolysis Bullosa Simplex.
So JY, Teng J. 1998 Oct 7 [Updated 2022 Aug 4].
EPG5-Related Disorder.
Dafsari HS, Ebrahimi-Fakhari D, Saffari A, et al. 2022 Oct 13.
ANKRD17-Related Neurodevelopmental Syndrome.
Sveden A, Gordon CT, Amiel J, et al. 2022 Dec 22.
X-Linked Hyper IgM Syndrome.
Dunn CP, de la Morena MT. 2007 May 31 [Updated 2020 Feb 20].
X-Linked Agammaglobulinemia.
Smith CIE, Berglöf A. 2001 Apr 5 [Updated 2024 Jun 27].
Ataxia-Telangiectasia.
Veenhuis S, van Os N, Weemaes C, et al. 1999 Mar 19 [Updated 2023 Oct 5].
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