CATSPER-Related Male Infertility – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.
Hildebrand MS, Avenarius MR, Smith RJH.
Hildebrand MS, et al.
2009 Dec 3 [updated 2017 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
2009 Dec 3 [updated 2017 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID: 20301780
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The diagnosis of DIS is established in both males and females by the identification of biallelic contiguous-gene deletions at chromosome 15q15.3 that includes both CATSPER2 and STRC. MANAGEMENT: Treatment of manifestations: For infertile males with DIS or CAT …
The diagnosis of DIS is established in both males and females by the identification of biallelic contiguous-gene deletions at …