Výsledky vyhledávání - "Elana Lopez-Rangel"

Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome

Autor: Elana Lopez-Rangel, Michael B. Petersen, Damina Balmer, Dieter Kotzot, Michael S. Wang, Wendy P. Robinson, B. N. Chodirker, Jolanda Gyftodimou, Robin Casey, Albert Schinzel

Publikováno v: American Journal of Medical Genetics. 86:34-43

Williams-Beuren syndrome (WBS) results from a deletion of 7q11.23 in 90-95% of all clinically typical cases. Clinical manifestation can be variable and therefore, deletion size, inherited elastin (ELN) and LIM kinase 1 (LIMK1) alleles, gender, and pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::961544282706e0b55eee2f4981ff686b
https://doi.org/10.1002/(sici)1096-8628(19990903)86:1<34::aid-ajmg7>3.0.co

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