id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
cord-010564-7c9h16bi	Unolt, Marta	Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition	2019-09-02		.txt	text/plain	4682	274	44	Based on the clinical presentation of these patients and on the recurrent phenotype of the patients with pathogenic variants in the CDC45 gene (Table 1) , reported by Fenwick et al., 5 we further expanded the atypical findings spectrum, to include rare gastrointestinal anomalies, such as intestinal malrotation, imperforate/anteriorly displaced anus and congenital diaphragmatic hernia and short stature (in absence of any endocrine or metabolic cause) and patellar anomalies. 5 identified biallelic pathogenic variants in the CDC45 gene in patients with a recurrent phenotype ( Table 1 ) they reported to be consistent with Meier-Gorlin syndrome (MGS, MIM 224690), a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, short stature, and absent or hypoplastic patellae. Importantly, we suggest that a pathogenic variant in CDC45 should now be considered in every patient with a 22q11.2 deletion who presents with the following findings: craniosynostosis, anorectal anomalies/intestinal malrotation, short stature, upper limb anomalies, and cleft lip and palate.	./cache/cord-010564-7c9h16bi.txt	./txt/cord-010564-7c9h16bi.txt