Two novel variants in DYRK1B causative of AOMS3: expanding the clinical spectrum.

Elvia C Mendoza-CaamalFrancisco Barajas-OlmosElaheh MirzaeicheshmehIan Ilizaliturri-FloresCarlos A Aguilar-SalinasDonaji V Gómez-VelascoIsabel Cicerón-ArellanoAdriana Reséndiz-RodríguezAngélica Martínez-HernándezCecilia Contreras-CubasSergio Islas-AndradeCarlos ZerrweckHumberto García-OrtizLorena Orozco-Orozco

Published in: Orphanet journal of rare diseases (2021)

Monogenic forms of metabolic diseases could be misdiagnosed and should be suspected in families with several affected members and early-onset metabolic phenotypes that are difficult to control. Early diagnostic strategies and medical interventions, even before symptoms or complications appear, could be useful.

Keyphrases

early onset
late onset
healthcare
pulmonary embolism
physical activity
risk factors
copy number
depressive symptoms