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   Articles with "syndrome genetic" as a keyword



Noonan syndrome: genetic and clinical update and treatment options

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recommendations! Published in 2020 at "Anales De Pediatria"

DOI: 10.1016/j.anpede.2020.04.009

Abstract: Noonan syndrome (NS) is a relatively common genetic condition characterised by short stature, congenital heart defects, and distinctive facial features. NS and other clinically overlapping conditions such as NS with multiple lentigines (formerly called LEOPARD… read more here.

Keywords: noonan syndrome; syndrome genetic; treatment; clinical update ... See more keywords

[Noonan syndrome: genetic and clinical update and treatment options].

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recommendations! Published in 2020 at "Anales de pediatria"

DOI: 10.1016/j.anpedi.2020.04.008

Abstract: Noonan syndrome (NS) is a relatively common genetic condition characterised by short stature, congenital heart defects, and distinctive facial features. NS and other clinically overlapping conditions such as NS with multiple lentigines (formerly called LEOPARD… read more here.

Keywords: noonan syndrome; syndrome genetic; treatment; clinical update ... See more keywords
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Metabolomic signature of the Dravet syndrome: A genetic mouse model study

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recommendations! Published in 2021 at "Epilepsia"

DOI: 10.1111/epi.16976

Abstract: Alterations in metabolic homeostasis can contribute to neuronal hyperexcitability and seizure susceptibility. Although the pivotal role of impaired bioenergetics is obvious in metabolic epilepsies, there is a gap of knowledge regarding secondary changes in metabolite… read more here.

Keywords: metabolomic signature; genetic mouse; syndrome genetic; signature dravet ... See more keywords

Genetic and Clinical Predictors of Hearing Loss Among Patients with CHARGE Syndrome.

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recommendations! Published in 2025 at "Journal of the American Academy of Audiology"

DOI: 10.3766/jaaa.230055

Abstract: Objective: CHARGE syndrome (CS) is a genetic disorder caused by pathogenic variants within chromodomainhelicase DNA-binding protein 7 (CHD7). The classical presentation includes coloboma,congenital heart defects, atresia of the choanae, retardation of development, genital hypoplasia, andear… read more here.

Keywords: loss; percent individuals; hearing loss; charge syndrome ... See more keywords