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Disorder of testis
- ... Ostrer H. Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination. Am J Hum Genet. 2010 Dec 10; ...
- ... cause the progressive liver damage characteristic of this disorder. More About This Health Condition CIR1A_HUMAN CIRH1A cirhin cirrhosis, autosomal recessive 1A (cirhin) FLJ14728 FLJ17146 KIAA1988 NAIC testis expressed gene 292 TEX292 Tests of UTP4 PubMed ...
- ... variants in this single gene can cause multiple disorders. Researchers speculate that changes ... 3H11Ag BBS14 cancer/testis antigen 87 CE290_HUMAN centrosomal protein 290kDa centrosomal ...
- ... IX) called GSD IXc. This form of the disorder affects liver function and causes an ... chain, testis/liver isoform phosphorylase kinase gamma subunit 2 phosphorylase ...
- ... determining region on Y SRY_HUMAN TDF TDY testis-determining factor ... Delot EC, Vilain EJ. Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development. 2003 Oct 30 [updated ...
- ... CAFS CTHM DGCR DGS DORV TBX1_HUMAN TBX1C Testis-specific T-box protein TGA VCFS ... Packham EA, Brook JD. T-box genes in human disorders. Hum Mol Genet. 2003 Apr 1;12 Spec ...
- ... thought to be a major cause of infertility. ... TSPYL1 gene associated with 46,XY disorder of sex development and male infertility. Fertil Steril. ...
- ... have been found to cause campomelic dysplasia, a disorder that affects skeletal ... MC, Schedl A, Behringer RR. Sox9 in testis determination. Ann N Y Acad Sci. 2005 Dec; ...