Haploinsufficiency of the FOXA2 associated with a complex clinical phenotype
نویسندگان
چکیده
منابع مشابه
Clinical phenotype of ASD-associated DYRK1A haploinsufficiency
BACKGROUND DYRK1A is a gene recurrently disrupted in 0.1-0.5% of the ASD population. A growing number of case reports with DYRK1A haploinsufficiency exhibit common phenotypic features including microcephaly, intellectual disability, speech delay, and facial dysmorphisms. METHODS Phenotypic information from previously published DYRK1A cases (n = 51) and participants in an ongoing study at the ...
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this thesis deals with the construction of some function algebras whose corresponding semigroup compactification are universal with respect to some properies of their enveloping semigroups. the special properties are of beigan a left zero, a left simple, a group, an inflation of the right zero, and an inflation of the rectangular band.
15 صفحه اولComplex phenotype associated with 17q21.31 microdeletion.
We report on a patient carrying a 17q21.31 microdeletion and exhibiting many common syndrome features, together with other clinical signs which have rarely or never been described to date. The detected 695-kb 17q21.31 deletion is larger than in most previously reported cases but is still probably the result of recombination between flanking low-copy repeats. Due to the complexity of the patient...
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BACKGROUND The Notch signaling pathway is an evolutionary conserved signal transduction pathway involved in embryonic patterning and regulation of cell fates during development and self-renewal. Recent studies have demonstrated that this pathway is integral to a complex system of interactions, involving as well other signal transduction pathways, and implicated in distinct human diseases. Delta...
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ژورنال
عنوان ژورنال: Molecular Genetics & Genomic Medicine
سال: 2020
ISSN: 2324-9269,2324-9269
DOI: 10.1002/mgg3.1086