Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Upper extremity deformities, congenital – diagnosis"'
HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability
Autor:
Mala Isrie, Vera M. Kalscheuer, Maureen Holvoet, Nathalie Fieremans, Koenraad Devriendt, Hilde Van Esch
Publikováno v:
European Journal of Medical Genetics
Europe PubMed Central
Europe PubMed Central
The advent of next-generation sequencing has proven to be a key force in the identification of new genes associated with intellectual disability. In this study, high-throughput sequencing of the coding regions of the X-chromosome led to the identific
Autor:
Zora, Zakanj
Publikováno v:
Liječnički vjesnik
Volume 135
Issue 1-2
Volume 135
Issue 1-2
Opisujemo kliničku sliku u muškog novorođenčeta s nedostatkom palca šake i hipoplastičnom podlakticom te s defektom interatrijskog septuma tipa sekundum (ASD II). Dijete nema drugih koštanih anomalija niti dismorfije lica. Morfologija mozga je