Recessively‐Inherited Adult‐Onset Alexander Disease Caused by a Homozygous Mutation in the GFAP Gene
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DOI: 10.1002/mds.28099
Abstract: Alexander disease (AxD) is an autosomal‐dominant leukodystrophy caused by heterozygous mutations in the glial fibrillary acidic protein (GFAP) gene. read more here.
Keywords: alexander disease; recessively inherited; gfap gene;
Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics
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DOI: 10.1007/s00125-021-05597-y
Abstract: Current clinical guidelines for childhood-onset monogenic diabetes outside infancy are mainly focused on identifying and testing for dominantly inherited, predominantly MODY genes. There are no systematic studies of the recessively inherited causes of monogenic diabetes… read more here.
Keywords: genetic testing; rates consanguinity; recessively inherited; monogenic diabetes ... See more keywords
Couple screening for recessively inherited disorders
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DOI: 10.1177/09691413221137039
Abstract: Couple screening aims to identify couples with an increased risk of having a child affected with an autosomal recessive or X-linked disorder, in order to facilitate informed reproductive decision making. Both expectant parents should be… read more here.
Keywords: screening recessively; inherited disorders; recessively inherited; couple screening ... See more keywords