A young man with DiGeorge syndrome and tachycardia. [PDF]
Neth Heart J, 2023 Bradt N +3 more
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Ripply3 overdosage induces mid-face shortening through Tbx1 downregulation in Down syndrome models.
PLoS GeneticsThe most frequent and unique features of Down syndrome (DS) are learning disability and craniofacial (CF) dysmorphism. The DS-specific CF features are an overall reduction in head dimensions (microcephaly), relatively wide and broad neurocranium ...
José Tomás Ahumada Saavedra +3 more
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DiGeorge Syndrome With Absence of Speech: A Rare Case. [PDF]
Cureus, 2023 Jayaprakasan SK +5 more
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Comparison of Elicitation Approaches in Early Stage HTA Applied on Artificial Thymus for Patients with DiGeorge Syndrome. [PDF]
Healthcare (Basel), 2023 Gorelova M +4 more
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Neuroinflammation and Oxidative Stress in Individuals Affected by DiGeorge Syndrome. [PDF]
Int J Mol Sci, 2023 Menghi M +11 more
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Psychiatric Comorbidities in Adults with DiGeorge Syndrome. [PDF]
Clin Psychopharmacol Neurosci, 2022 Patel H +8 more
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Abnormal developmental trajectory and vulnerability to cardiac arrhythmias in tetralogy of Fallot with DiGeorge syndrome. [PDF]
Commun Biol, 2023 Chan CH +10 more
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Chromosome 22q11.2 Deletion (DiGeorge Syndrome): Immunologic Features, Diagnosis, and Management. [PDF]
Curr Allergy Asthma Rep, 2023 Biggs SE, Gilchrist B, May KR.
europepmc +1 more source
Asymmetric crying facies associated with congenital hypoparathyroidism and 22q11 deletion
The Turkish Journal of Pediatrics, 2004 Asymmetric crying facies is caused by congenital hypoplasia or agenesis of the depressor anguli oris muscle. Associations of this facial defect with major congenital anomalies have been reported, most commonly in the cardiovascular system and less
Mustafa Akçakuş +7 more
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