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Results in this book: 6

GeneReviews® [Internet].

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


1.

Joubert Syndrome.

Parisi M, Glass I. 2003 Jul 9 [Updated 2017 Jun 29].

2.

Thanatophoric Dysplasia.

French T, Savarirayan R. 2004 May 21 [Updated 2023 May 18].

3.

Cranioectodermal Dysplasia.

Tan W, Lin A, Keppler-Noreuil K. 2013 Sep 12 [Updated 2022 Dec 15].

4.

Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview.

Kumaran N, Pennesi ME, Yang P, et al. 2018 Oct 4 [Updated 2023 Mar 23].

5.

FAM111A-Related Skeletal Dysplasias.

Cheng S, Lo IFM, Luk HM. 2023 Apr 6.

6.

Ellis-van Creveld Syndrome.

Da Silva JD, Tkachenko N, Soares AR. 2023 Oct 26.

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