Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.
Sign Up to like & getrecommendations! Published in 2019 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2019.09.009
Abstract: NKAP is a ubiquitously expressed nucleoplasmic protein that is currently known as a transcriptional regulatory molecule via its interaction with HDAC3 and spliceosomal proteins. Here, we report a disorder of transcriptional regulation due to missense… read more here.
Keywords: transcriptional regulation; disorder transcriptional; marfanoid habitus; terminal region ... See more keywords
Marfanoid habitus is a nonspecific feature of Perrault syndrome
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DOI: 10.1097/mcd.0000000000000198
Abstract: The objective of this study was to report the clinical and biological characteristics of two Perrault syndrome cases in a Moroccan family with homozygous variant c.1565C>A in the LARS2 gene and to establish genotype–phenotype correlation… read more here.
Keywords: nonspecific feature; perrault syndrome; feature perrault; marfanoid habitus ... See more keywords
How to Distinguish Marfan Syndrome from Marfanoid Habitus in a Physical Examination—Comparison of External Features in Patients with Marfan Syndrome and Marfanoid Habitus
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Environmental Research and Public Health"
DOI: 10.3390/ijerph19020772
Abstract: Marfan Syndrome (MFS) is a systemic disorder caused by mutations in fibrillin-1. The most common cause of mortality in MFS is dissection and rupture of the aorta. Due to a highly variable and age-dependent clinical… read more here.
Keywords: marfan syndrome; syndrome marfanoid; marfanoid habitus; mfs ... See more keywords