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Carney complex -trismus -pseudocamptodactyly syndrome
Did you mean Carney complex -trismus -"pseudo camptodactyly" syndrome?
- ... occur in people with no history of Carney complex in their family. Carney Syndrome LAMB - Lentigines, atrial myxoma, mucocutaneous myoma, blue nevus syndrome NAME - Nevi, atrial myxoma, skin myxoma, ephelides syndrome ... Genetic Testing Registry: Carney complex Genetic Testing Registry: Carney complex, type 1 Genetic ...
- ... article on PubMed Central Salpea P, Stratakis CA. Carney complex and McCune Albright syndrome: an overview of clinical manifestations and human molecular ...
- ... anchor subunit Tests of SDHD ... ME, Rich TA, Chuang HH, Trent J, Perrier ND, Goodarzi M, Jimenez C. Paraganglioma syndrome type 1 in a patient with Carney-Stratakis syndrome. Nat Rev Endocrinol. 2010 Feb;6( ...
- ... 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 ...
- ... 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 ...
- ... 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: ...
- ... 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 ...
- ... on PubMed Central Lyst MJ, Bird A. Rett syndrome: a complex disorder with simple roots. Nat Rev Genet. 2015 ...
- ... 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): ...