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Results 51 - 58 of 58 for Carney complex -trismus -pseudocamptodactyly syndrome
Did you mean Carney complex -trismus -"pseudo camptodactyly" syndrome?
  1. Eunice Kennedy Shriver National Institute of Child Health and Human Development (Eunice Kennedy Shriver National Institute of Child Health and Human Development)  
    ... NICHD Research Information Find a Study More Information Carney Complex Carney Complex About NICHD Research Information Find a Study More ...
    https://www.nichd.nih.gov - Other Resources
  2. SDHC gene 
    ... GIST and paraganglioma is known as known as Carney-Stratakis syndrome; and the combination of GIST and pulmonary chondroma ... Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for ...
    https://medlineplus.gov/genetics/gene/sdhc - Genetics
  3. SDHB gene 
    ... combination of tumors is a condition known as Carney-Stratakis syndrome. Rarely, individuals with these mutations develop only GIST ... Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for ...
    https://medlineplus.gov/genetics/gene/sdhb - Genetics
  4. Hereditary paraganglioma-pheochromocytoma 
    ... other inherited disorders, such as von Hippel-Lindau syndrome, Carney-Stratakis syndrome, and certain types of multiple endocrine neoplasia. These ... head and neck paragangliomas result in destabilization of complex II in the mitochondrial respiratory ... Syndromes. 2008 May 21 [updated 2023 Sep 21]. In: ...
    https://medlineplus.gov/...hereditary-paraganglioma-pheochromocytoma - Genetics
  5. What Are the Treatments for Congenital Adrenal Hyperplasia (CAH)? From the National Institutes of Health (Eunice Kennedy Shriver National Institute of Child Health and Human Development)  
    Eunice Kennedy Shriver National Institute of Child Health and Human Development ... Adrenal Gland Disorders/Treatments and Therapies ... Adrenal Gland Disorders ...
    https://www.nichd.nih.gov/health/topics/cah/conditioninfo/treatments - External Health Links
  6. SDHA gene 
    ... GIST and paraganglioma is known as known as Carney-Stratakis syndrome.An inherited (germline) mutation in the SDHA gene ... flavoprotein (Fp) Tests of SDHA PubMed SUCCINATE DEHYDROGENASE COMPLEX, FLAVOPROTEIN SUBUNIT A; SDHA LEIGH SYNDROME, NUCLEAR; NULS NCBI Gene ClinVar Belinsky MG, Rink ...
    https://medlineplus.gov/genetics/gene/sdha - Genetics
  7. MECP2 gene 
    ... on PubMed Central Lyst MJ, Bird A. Rett syndrome: a complex disorder with simple roots. Nat Rev Genet. 2015 ...
    https://medlineplus.gov/genetics/gene/mecp2 - Genetics
  8. CDH23 gene 
    ... Oshima A, Jaijo T, Aller E, Millan JM, Carney C, Usami S, Moller C, Kimberling WJ. Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I. Hum Mutat. 2008 Jun;29(6): ...
    https://medlineplus.gov/genetics/gene/cdh23 - Genetics
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