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Fraser syndrome 2
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- ... Branchiootorenal dysplasia Branchiootorenal spectrum disorders Branchiootorenal syndrome Melnick-Fraser syndrome Genetic Testing Registry: Branchiootic syndrome 3 Genetic Testing Registry: Branchiootorenal syndrome 2 Genetic Testing Registry: Branchiootic syndrome 1 Genetic Testing ...
- ... Wainwright B, Woolf AS, Winter RM, Scambler PJ. Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein. Nat Genet. 2003 Jun;34(2):203-8. doi: 10.1038/ng1142. Citation on ...
- ... ddh191. Epub 2004 Jun 22. Citation on PubMed Fraser FC, Der Kaloustian VM. A man, a syndrome, a gene: Clouston's hidrotic ectodermal dysplasia (HED). Am J Med Genet. 2001 Apr 22;100(2):164-8. doi: 10.1002/1096-8628(20010422) ...
- ... deletion syndrome, renal cysts and diabetes (RCAD) syndrome, Fraser syndrome, Townes-Brocks syndrome, and branchio-oto-renal syndrome ... is involved in 17q12 deletion syndrome and RCAD syndrome. These two genes play critical roles in the formation of ...
- ... syndrome type 1 Genetic Testing Registry: Axenfeld-Rieger syndrome type 2 Genetic Testing Registry: Axenfeld-Rieger syndrome type 3 ... for Rare Disorders (NORD) ClinicalTrials.gov AXENFELD-RIEGER SYNDROME, TYPE 2; RIEG2 AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1 AXENFELD- ...
- ... deletion occurs. The chromosomal change related to TAR syndrome is often called the 200-kb deletion. ... microdeletion is inherited in an autosomal dominant pattern, which means that missing genetic material from one of the two copies of chromosome 1 in each cell is ...