Výsledky vyhledávání - "Randy Spinks"

Interstitial deletion of chromosome 4, del(4)(q12q21.1), in a mentally retarded boy with a piebald trait, due to maternal insertion, ins(8;4)

Autor: K.S. Reddy, Atsuko Fujimoto, Randy Spinks

Publikováno v: American Journal of Medical Genetics. 75:78-81

A 17-year-old boy who was diagnosed with “Waardenburg syndrome” showed moderate growth and mental retardation. Chromosome analysis showed an apparent interstitial deletion 4q12q21.1. The mother had a direct insertion of the deleted segment into a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd826799ca94364004e372e32bc94fac
https://doi.org/10.1002/(sici)1096-8628(19980106)75:1<78::aid-ajmg16>3.0.co

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